Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies
Identifieur interne : 001D63 ( Pmc/Curation ); précédent : 001D62; suivant : 001D64Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies
Auteurs : Cindy S. Ma [Australie] ; Natalie Wong [Australie] ; Geetha Rao [Australie] ; Danielle T. Avery [Australie] ; James Torpy [Australie] ; Thomas Hambridge [Australie] ; Jacinta Bustamante [France] ; Satoshi Okada [Japon] ; Jennifer L. Stoddard [États-Unis] ; Elissa K. Deenick [Australie] ; Simon J. Pelham [Australie] ; Katherine Payne [Australie] ; Stéphanie Boisson-Dupuis [France, États-Unis] ; Anne Puel [France] ; Masao Kobayashi [Japon] ; Peter D. Arkwright [Royaume-Uni] ; Sara Sebnem Kilic [Turquie] ; Jamila El Baghdadi [Maroc] ; Shigeaki Nonoyama [Japon] ; Yoshiyuki Minegishi [Japon] ; Seyed Alireza Mahdaviani [Iran] ; Davood Mansouri [Iran] ; Aziz Bousfiha [Maroc] ; Annaliesse K. Blincoe [Nouvelle-Zélande] ; Martyn A. French [Australie] ; Peter Hsu [Australie] ; Dianne E. Campbell [Australie] ; Michael O. Stormon [Australie] ; Melanie Wong [Australie] ; Stephen Adelstein [Australie] ; Joanne M. Smart [Australie] ; David A. Fulcher [Australie] ; Matthew C. Cook [Australie] ; Tri G. Phan [Australie] ; Polina Stepensky [Israël] ; Kaan Boztug [Autriche] ; Aydan Kansu [Turquie] ; Aydan Ikincio Ullari [Turquie] ; Ulrich Baumann [Allemagne] ; Rita Beier [Allemagne] ; Tony Roscioli [Australie] ; John B. Ziegler [Australie] ; Paul Gray [Australie] ; Capucine Picard [France] ; Bodo Grimbacher [Allemagne] ; Klaus Warnatz [Allemagne] ; Steven M. Holland [États-Unis] ; Jean-Laurent Casanova [France, États-Unis] ; Gulbu Uzel [États-Unis] ; Stuart G. Tangye [Australie]Source :
- The Journal of allergy and clinical immunology [ 0091-6749 ] ; 2015.
Abstract
T follicular helper (Tfh) cells underpin T-cell dependent humoral immunity and the success of most vaccines. Tfh cells also contribute to human immune disorders such as autoimmunity, immunodeficiency and malignancy. Understanding the molecular requirements for the generation and function of Tfh cells will provide strategies for targeting these cells to modulate their behavior in the setting of these immunological abnormalities.
To determine the signaling pathways and cellular interactions required for the development and function of Tfh cells in humans.
Human primary immunodeficiencies (PIDs) resulting from monogenic mutations provide a unique opportunity to assess the requirement for particular molecules in regulating human lymphocyte function. Circulating Tfh (cTfh) cell subsets, memory B cells and serum Ig levels were quantified and functionally assessed in healthy controls as well as patients with PIDs resulting from mutations in
Loss-of function (LOF) mutations in
Specific mutations impact the quantity and quality of cTfh cells, highlighting the need to assess Tfh cells in patients by multiple criteria, including phenotype and function. Furthermore, IFNγ functions
Url:
DOI: 10.1016/j.jaci.2015.05.036
PubMed: 26162572
PubMed Central: 5042203
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Cindy S. Ma<affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="A4">Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="A4">Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="A32">Kinghorn Centre for Clinical Genomics, Victoria St Darlinghurst NSW Australia</nlm:aff><wicri:noCountry code="subfield">Victoria St Darlinghurst NSW Australia</wicri:noCountry></affiliation><affiliation wicri:level="2"><nlm:aff id="A33">Department of Medical Genetics, Sydney Children’s Hospital, Randwick, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Medical Genetics, Sydney Children’s Hospital, Randwick</wicri:cityArea></affiliation><affiliation><nlm:aff id="A32">Kinghorn Centre for Clinical Genomics, Victoria St Darlinghurst NSW Australia</nlm:aff><wicri:noCountry code="subfield">Victoria St Darlinghurst NSW Australia</wicri:noCountry></affiliation><affiliation wicri:level="2"><nlm:aff id="A33">Department of Medical Genetics, Sydney Children’s Hospital, Randwick, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Medical Genetics, Sydney Children’s Hospital, Randwick</wicri:cityArea></affiliation><affiliation><nlm:aff id="A4">Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation>Le document en format XML
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Ma</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author><author><name sortKey="Wong, Natalie" sort="Wong, Natalie" uniqKey="Wong N" first="Natalie" last="Wong">Natalie Wong</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Rao, Geetha" sort="Rao, Geetha" uniqKey="Rao G" first="Geetha" last="Rao">Geetha Rao</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Avery, Danielle T" sort="Avery, Danielle T" uniqKey="Avery D" first="Danielle T" last="Avery">Danielle T. 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Stoddard</name><affiliation wicri:level="1"><nlm:aff id="A6">Clinical Center, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Center, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Deenick, Elissa K" sort="Deenick, Elissa K" uniqKey="Deenick E" first="Elissa K" last="Deenick">Elissa K. Deenick</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author><author><name sortKey="Pelham, Simon J" sort="Pelham, Simon J" uniqKey="Pelham S" first="Simon J" last="Pelham">Simon J. Pelham</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author><author><name sortKey="Payne, Katherine" sort="Payne, Katherine" uniqKey="Payne K" first="Katherine" last="Payne">Katherine Payne</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A7">St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York</wicri:regionArea></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="A4">Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Kobayashi, Masao" sort="Kobayashi, Masao" uniqKey="Kobayashi M" first="Masao" last="Kobayashi">Masao Kobayashi</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima</wicri:regionArea></affiliation></author><author><name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D" last="Arkwright">Peter D. Arkwright</name><affiliation wicri:level="1"><nlm:aff id="A8">University of Manchester, Royal Manchester Children’s Hospital, Manchester M13 9WL, England, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Manchester, Royal Manchester Children’s Hospital, Manchester M13 9WL, England</wicri:regionArea></affiliation></author><author><name sortKey="Kilic, Sara Sebnem" sort="Kilic, Sara Sebnem" uniqKey="Kilic S" first="Sara Sebnem" last="Kilic">Sara Sebnem Kilic</name><affiliation wicri:level="1"><nlm:aff id="A9">10Department of Pediatric Immunology, Uludag University Medical Faculty, Görükle, Bursa, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>10Department of Pediatric Immunology, Uludag University Medical Faculty, Görükle, Bursa</wicri:regionArea></affiliation></author><author><name sortKey="Baghdadi, Jamila El" sort="Baghdadi, Jamila El" uniqKey="Baghdadi J" first="Jamila El" last="Baghdadi">Jamila El Baghdadi</name><affiliation wicri:level="1"><nlm:aff id="A10">Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat, Morocco</nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat</wicri:regionArea></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation wicri:level="1"><nlm:aff id="A11">Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama</wicri:regionArea></affiliation></author><author><name sortKey="Minegishi, Yoshiyuki" sort="Minegishi, Yoshiyuki" uniqKey="Minegishi Y" first="Yoshiyuki" last="Minegishi">Yoshiyuki Minegishi</name><affiliation wicri:level="1"><nlm:aff id="A12">Division of Molecular Medicine, Institute for Genome Research, The University of Tokushima, Tokushima, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Molecular Medicine, Institute for Genome Research, The University of Tokushima, Tokushima</wicri:regionArea></affiliation></author><author><name sortKey="Mahdaviani, Seyed Alireza" sort="Mahdaviani, Seyed Alireza" uniqKey="Mahdaviani S" first="Seyed Alireza" last="Mahdaviani">Seyed Alireza Mahdaviani</name><affiliation wicri:level="1"><nlm:aff id="A13">National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739</wicri:regionArea></affiliation></author><author><name sortKey="Mansouri, Davood" sort="Mansouri, Davood" uniqKey="Mansouri D" first="Davood" last="Mansouri">Davood Mansouri</name><affiliation wicri:level="1"><nlm:aff id="A13">National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739</wicri:regionArea></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation wicri:level="1"><nlm:aff id="A14">Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, 20100, Morocco</nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, 20100</wicri:regionArea></affiliation></author><author><name sortKey="Blincoe, Annaliesse K" sort="Blincoe, Annaliesse K" uniqKey="Blincoe A" first="Annaliesse K" last="Blincoe">Annaliesse K. Blincoe</name><affiliation wicri:level="1"><nlm:aff id="A15">Starship Children’s Hospital, Auckland, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Starship Children’s Hospital, Auckland</wicri:regionArea></affiliation></author><author><name sortKey="French, Martyn A" sort="French, Martyn A" uniqKey="French M" first="Martyn A" last="French">Martyn A. French</name><affiliation wicri:level="1"><nlm:aff id="A16">Department of Clinical Immunology, Royal Perth Hospital, WA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Immunology, Royal Perth Hospital, WA</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Pathology and Laboratory Medicine, University of Western Australia, Perth</wicri:regionArea></affiliation></author><author><name sortKey="Hsu, Peter" sort="Hsu, Peter" uniqKey="Hsu P" first="Peter" last="Hsu">Peter Hsu</name><affiliation wicri:level="1"><nlm:aff id="A18">Children’s Hospital at Westmead, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Children’s Hospital at Westmead, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Campbell, Dianne E" sort="Campbell, Dianne E" uniqKey="Campbell D" first="Dianne E." last="Campbell">Dianne E. Campbell</name><affiliation wicri:level="1"><nlm:aff id="A18">Children’s Hospital at Westmead, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Children’s Hospital at Westmead, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Stormon, Michael O" sort="Stormon, Michael O" uniqKey="Stormon M" first="Michael O" last="Stormon">Michael O. Stormon</name><affiliation wicri:level="1"><nlm:aff id="A18">Children’s Hospital at Westmead, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Children’s Hospital at Westmead, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Wong, Melanie" sort="Wong, Melanie" uniqKey="Wong M" first="Melanie" last="Wong">Melanie Wong</name><affiliation wicri:level="1"><nlm:aff id="A18">Children’s Hospital at Westmead, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Children’s Hospital at Westmead, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Adelstein, Stephen" sort="Adelstein, Stephen" uniqKey="Adelstein S" first="Stephen" last="Adelstein">Stephen Adelstein</name><affiliation wicri:level="1"><nlm:aff id="A19">Clinical Immunology, Royal Prince Alfred Hospital, Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Clinical Immunology, Royal Prince Alfred Hospital, Sydney, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Smart, Joanne M" sort="Smart, Joanne M" uniqKey="Smart J" first="Joanne M" last="Smart">Joanne M. Smart</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Allergy and Immunology, Royal Children’s Hospital Melbourne, VIC, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Allergy and Immunology, Royal Children’s Hospital Melbourne, VIC</wicri:regionArea></affiliation></author><author><name sortKey="Fulcher, David A" sort="Fulcher, David A" uniqKey="Fulcher D" first="David A" last="Fulcher">David A. Fulcher</name><affiliation wicri:level="1"><nlm:aff id="A21">Department of Immunology, Westmead Hospital, University of Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Immunology, Westmead Hospital, University of Sydney, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Cook, Matthew C" sort="Cook, Matthew C" uniqKey="Cook M" first="Matthew C" last="Cook">Matthew C. Cook</name><affiliation wicri:level="1"><nlm:aff id="A22">Australian National University Medical School, Australian National University, ACT, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Australian National University Medical School, Australian National University, ACT</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A23">John Curtin School of Medical Research, Australian National University, ACT, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>John Curtin School of Medical Research, Australian National University, ACT</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A24">Department of Immunology, The Canberra Hospital, ACT, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Immunology, The Canberra Hospital, ACT</wicri:regionArea></affiliation></author><author><name sortKey="Phan, Tri G" sort="Phan, Tri G" uniqKey="Phan T" first="Tri G" last="Phan">Tri G. Phan</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author><author><name sortKey="Stepensky, Polina" sort="Stepensky, Polina" uniqKey="Stepensky P" first="Polina" last="Stepensky">Polina Stepensky</name><affiliation wicri:level="1"><nlm:aff id="A25">Pediatric Hematology-Oncology and Bone Marrow Transplantation Hadassah, Hebrew University Medical Center, Jerusalem, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Hematology-Oncology and Bone Marrow Transplantation Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Boztug, Kaan" sort="Boztug, Kaan" uniqKey="Boztug K" first="Kaan" last="Boztug">Kaan Boztug</name><affiliation wicri:level="1"><nlm:aff id="A26">CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A27">Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Medical University of Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Kansu, Aydan" sort="Kansu, Aydan" uniqKey="Kansu A" first="Aydan" last="Kansu">Aydan Kansu</name><affiliation wicri:level="1"><nlm:aff id="A28">Department of Pediatric Gastroenterology, Ankara University, Ankara, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Gastroenterology, Ankara University, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Ikincio Ullari, Aydan" sort="Ikincio Ullari, Aydan" uniqKey="Ikincio Ullari A" first="Aydan" last="Ikincio Ullari">Aydan Ikincio Ullari</name><affiliation wicri:level="1"><nlm:aff id="A29">Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Baumann, Ulrich" sort="Baumann, Ulrich" uniqKey="Baumann U" first="Ulrich" last="Baumann">Ulrich Baumann</name><affiliation wicri:level="1"><nlm:aff id="A30">Paediatric Pulmonology, Allergy and Neonatology, Hanover Medical School, Hannover, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Paediatric Pulmonology, Allergy and Neonatology, Hanover Medical School, Hannover</wicri:regionArea></affiliation></author><author><name sortKey="Beier, Rita" sort="Beier, Rita" uniqKey="Beier R" first="Rita" last="Beier">Rita Beier</name><affiliation wicri:level="1"><nlm:aff id="A31">Pediatric Haematology and Oncology, University Hospital Essen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Haematology and Oncology, University Hospital Essen</wicri:regionArea></affiliation></author><author><name sortKey="Roscioli, Tony" sort="Roscioli, Tony" uniqKey="Roscioli T" first="Tony" last="Roscioli">Tony Roscioli</name><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="A32">Kinghorn Centre for Clinical Genomics, Victoria St Darlinghurst NSW Australia</nlm:aff><wicri:noCountry code="subfield">Victoria St Darlinghurst NSW Australia</wicri:noCountry></affiliation><affiliation wicri:level="2"><nlm:aff id="A33">Department of Medical Genetics, Sydney Children’s Hospital, Randwick, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Medical Genetics, Sydney Children’s Hospital, Randwick</wicri:cityArea></affiliation></author><author><name sortKey="Ziegler, John B" sort="Ziegler, John B" uniqKey="Ziegler J" first="John B" last="Ziegler">John B. Ziegler</name><affiliation wicri:level="1"><nlm:aff id="A34">University of New South Wales School of Women’s and Children’s Health, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales School of Women’s and Children’s Health, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Gray, Paul" sort="Gray, Paul" uniqKey="Gray P" first="Paul" last="Gray">Paul Gray</name><affiliation wicri:level="1"><nlm:aff id="A34">University of New South Wales School of Women’s and Children’s Health, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales School of Women’s and Children’s Health, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="A4">Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Grimbacher, Bodo" sort="Grimbacher, Bodo" uniqKey="Grimbacher B" first="Bodo" last="Grimbacher">Bodo Grimbacher</name><affiliation wicri:level="1"><nlm:aff id="A35">Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg</wicri:regionArea></affiliation></author><author><name sortKey="Warnatz, Klaus" sort="Warnatz, Klaus" uniqKey="Warnatz K" first="Klaus" last="Warnatz">Klaus Warnatz</name><affiliation wicri:level="1"><nlm:aff id="A35">Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg</wicri:regionArea></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M" last="Holland">Steven M. Holland</name><affiliation wicri:level="1"><nlm:aff id="A36">Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A7">St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A37">Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A38">Howard Hughes Medical Institute, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Howard Hughes Medical Institute, NY</wicri:regionArea></affiliation></author><author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name><affiliation wicri:level="1"><nlm:aff id="A36">Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G" last="Tangye">Stuart G. Tangye</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26162572</idno><idno type="pmc">5042203</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042203</idno><idno type="RBID">PMC:5042203</idno><idno type="doi">10.1016/j.jaci.2015.05.036</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001F07</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001F07</idno><idno type="wicri:Area/Pmc/Curation">001D63</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001D63</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies</title><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S" last="Ma">Cindy S. Ma</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author><author><name sortKey="Wong, Natalie" sort="Wong, Natalie" uniqKey="Wong N" first="Natalie" last="Wong">Natalie Wong</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Rao, Geetha" sort="Rao, Geetha" uniqKey="Rao G" first="Geetha" last="Rao">Geetha Rao</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Avery, Danielle T" sort="Avery, Danielle T" uniqKey="Avery D" first="Danielle T" last="Avery">Danielle T. Avery</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Torpy, James" sort="Torpy, James" uniqKey="Torpy J" first="James" last="Torpy">James Torpy</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Hambridge, Thomas" sort="Hambridge, Thomas" uniqKey="Hambridge T" first="Thomas" last="Hambridge">Thomas Hambridge</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="A4">Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima</wicri:regionArea></affiliation></author><author><name sortKey="Stoddard, Jennifer L" sort="Stoddard, Jennifer L" uniqKey="Stoddard J" first="Jennifer L" last="Stoddard">Jennifer L. Stoddard</name><affiliation wicri:level="1"><nlm:aff id="A6">Clinical Center, National Institutes of Health, Bethesda, Maryland, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Center, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Deenick, Elissa K" sort="Deenick, Elissa K" uniqKey="Deenick E" first="Elissa K" last="Deenick">Elissa K. Deenick</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author><author><name sortKey="Pelham, Simon J" sort="Pelham, Simon J" uniqKey="Pelham S" first="Simon J" last="Pelham">Simon J. Pelham</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author><author><name sortKey="Payne, Katherine" sort="Payne, Katherine" uniqKey="Payne K" first="Katherine" last="Payne">Katherine Payne</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A7">St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York</wicri:regionArea></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="A4">Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Kobayashi, Masao" sort="Kobayashi, Masao" uniqKey="Kobayashi M" first="Masao" last="Kobayashi">Masao Kobayashi</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima</wicri:regionArea></affiliation></author><author><name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D" last="Arkwright">Peter D. Arkwright</name><affiliation wicri:level="1"><nlm:aff id="A8">University of Manchester, Royal Manchester Children’s Hospital, Manchester M13 9WL, England, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Manchester, Royal Manchester Children’s Hospital, Manchester M13 9WL, England</wicri:regionArea></affiliation></author><author><name sortKey="Kilic, Sara Sebnem" sort="Kilic, Sara Sebnem" uniqKey="Kilic S" first="Sara Sebnem" last="Kilic">Sara Sebnem Kilic</name><affiliation wicri:level="1"><nlm:aff id="A9">10Department of Pediatric Immunology, Uludag University Medical Faculty, Görükle, Bursa, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>10Department of Pediatric Immunology, Uludag University Medical Faculty, Görükle, Bursa</wicri:regionArea></affiliation></author><author><name sortKey="Baghdadi, Jamila El" sort="Baghdadi, Jamila El" uniqKey="Baghdadi J" first="Jamila El" last="Baghdadi">Jamila El Baghdadi</name><affiliation wicri:level="1"><nlm:aff id="A10">Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat, Morocco</nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat</wicri:regionArea></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation wicri:level="1"><nlm:aff id="A11">Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama</wicri:regionArea></affiliation></author><author><name sortKey="Minegishi, Yoshiyuki" sort="Minegishi, Yoshiyuki" uniqKey="Minegishi Y" first="Yoshiyuki" last="Minegishi">Yoshiyuki Minegishi</name><affiliation wicri:level="1"><nlm:aff id="A12">Division of Molecular Medicine, Institute for Genome Research, The University of Tokushima, Tokushima, Japan</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Molecular Medicine, Institute for Genome Research, The University of Tokushima, Tokushima</wicri:regionArea></affiliation></author><author><name sortKey="Mahdaviani, Seyed Alireza" sort="Mahdaviani, Seyed Alireza" uniqKey="Mahdaviani S" first="Seyed Alireza" last="Mahdaviani">Seyed Alireza Mahdaviani</name><affiliation wicri:level="1"><nlm:aff id="A13">National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739</wicri:regionArea></affiliation></author><author><name sortKey="Mansouri, Davood" sort="Mansouri, Davood" uniqKey="Mansouri D" first="Davood" last="Mansouri">Davood Mansouri</name><affiliation wicri:level="1"><nlm:aff id="A13">National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739, Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739</wicri:regionArea></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation wicri:level="1"><nlm:aff id="A14">Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, 20100, Morocco</nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, 20100</wicri:regionArea></affiliation></author><author><name sortKey="Blincoe, Annaliesse K" sort="Blincoe, Annaliesse K" uniqKey="Blincoe A" first="Annaliesse K" last="Blincoe">Annaliesse K. Blincoe</name><affiliation wicri:level="1"><nlm:aff id="A15">Starship Children’s Hospital, Auckland, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Starship Children’s Hospital, Auckland</wicri:regionArea></affiliation></author><author><name sortKey="French, Martyn A" sort="French, Martyn A" uniqKey="French M" first="Martyn A" last="French">Martyn A. French</name><affiliation wicri:level="1"><nlm:aff id="A16">Department of Clinical Immunology, Royal Perth Hospital, WA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Immunology, Royal Perth Hospital, WA</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Pathology and Laboratory Medicine, University of Western Australia, Perth</wicri:regionArea></affiliation></author><author><name sortKey="Hsu, Peter" sort="Hsu, Peter" uniqKey="Hsu P" first="Peter" last="Hsu">Peter Hsu</name><affiliation wicri:level="1"><nlm:aff id="A18">Children’s Hospital at Westmead, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Children’s Hospital at Westmead, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Campbell, Dianne E" sort="Campbell, Dianne E" uniqKey="Campbell D" first="Dianne E." last="Campbell">Dianne E. Campbell</name><affiliation wicri:level="1"><nlm:aff id="A18">Children’s Hospital at Westmead, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Children’s Hospital at Westmead, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Stormon, Michael O" sort="Stormon, Michael O" uniqKey="Stormon M" first="Michael O" last="Stormon">Michael O. Stormon</name><affiliation wicri:level="1"><nlm:aff id="A18">Children’s Hospital at Westmead, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Children’s Hospital at Westmead, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Wong, Melanie" sort="Wong, Melanie" uniqKey="Wong M" first="Melanie" last="Wong">Melanie Wong</name><affiliation wicri:level="1"><nlm:aff id="A18">Children’s Hospital at Westmead, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Children’s Hospital at Westmead, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Adelstein, Stephen" sort="Adelstein, Stephen" uniqKey="Adelstein S" first="Stephen" last="Adelstein">Stephen Adelstein</name><affiliation wicri:level="1"><nlm:aff id="A19">Clinical Immunology, Royal Prince Alfred Hospital, Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Clinical Immunology, Royal Prince Alfred Hospital, Sydney, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Smart, Joanne M" sort="Smart, Joanne M" uniqKey="Smart J" first="Joanne M" last="Smart">Joanne M. Smart</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Allergy and Immunology, Royal Children’s Hospital Melbourne, VIC, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Allergy and Immunology, Royal Children’s Hospital Melbourne, VIC</wicri:regionArea></affiliation></author><author><name sortKey="Fulcher, David A" sort="Fulcher, David A" uniqKey="Fulcher D" first="David A" last="Fulcher">David A. Fulcher</name><affiliation wicri:level="1"><nlm:aff id="A21">Department of Immunology, Westmead Hospital, University of Sydney, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Immunology, Westmead Hospital, University of Sydney, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Cook, Matthew C" sort="Cook, Matthew C" uniqKey="Cook M" first="Matthew C" last="Cook">Matthew C. Cook</name><affiliation wicri:level="1"><nlm:aff id="A22">Australian National University Medical School, Australian National University, ACT, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Australian National University Medical School, Australian National University, ACT</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A23">John Curtin School of Medical Research, Australian National University, ACT, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>John Curtin School of Medical Research, Australian National University, ACT</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A24">Department of Immunology, The Canberra Hospital, ACT, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Immunology, The Canberra Hospital, ACT</wicri:regionArea></affiliation></author><author><name sortKey="Phan, Tri G" sort="Phan, Tri G" uniqKey="Phan T" first="Tri G" last="Phan">Tri G. Phan</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author><author><name sortKey="Stepensky, Polina" sort="Stepensky, Polina" uniqKey="Stepensky P" first="Polina" last="Stepensky">Polina Stepensky</name><affiliation wicri:level="1"><nlm:aff id="A25">Pediatric Hematology-Oncology and Bone Marrow Transplantation Hadassah, Hebrew University Medical Center, Jerusalem, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Hematology-Oncology and Bone Marrow Transplantation Hadassah, Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Boztug, Kaan" sort="Boztug, Kaan" uniqKey="Boztug K" first="Kaan" last="Boztug">Kaan Boztug</name><affiliation wicri:level="1"><nlm:aff id="A26">CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A27">Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Austria</nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Medical University of Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Kansu, Aydan" sort="Kansu, Aydan" uniqKey="Kansu A" first="Aydan" last="Kansu">Aydan Kansu</name><affiliation wicri:level="1"><nlm:aff id="A28">Department of Pediatric Gastroenterology, Ankara University, Ankara, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Gastroenterology, Ankara University, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Ikincio Ullari, Aydan" sort="Ikincio Ullari, Aydan" uniqKey="Ikincio Ullari A" first="Aydan" last="Ikincio Ullari">Aydan Ikincio Ullari</name><affiliation wicri:level="1"><nlm:aff id="A29">Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Baumann, Ulrich" sort="Baumann, Ulrich" uniqKey="Baumann U" first="Ulrich" last="Baumann">Ulrich Baumann</name><affiliation wicri:level="1"><nlm:aff id="A30">Paediatric Pulmonology, Allergy and Neonatology, Hanover Medical School, Hannover, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Paediatric Pulmonology, Allergy and Neonatology, Hanover Medical School, Hannover</wicri:regionArea></affiliation></author><author><name sortKey="Beier, Rita" sort="Beier, Rita" uniqKey="Beier R" first="Rita" last="Beier">Rita Beier</name><affiliation wicri:level="1"><nlm:aff id="A31">Pediatric Haematology and Oncology, University Hospital Essen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Haematology and Oncology, University Hospital Essen</wicri:regionArea></affiliation></author><author><name sortKey="Roscioli, Tony" sort="Roscioli, Tony" uniqKey="Roscioli T" first="Tony" last="Roscioli">Tony Roscioli</name><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="A32">Kinghorn Centre for Clinical Genomics, Victoria St Darlinghurst NSW Australia</nlm:aff><wicri:noCountry code="subfield">Victoria St Darlinghurst NSW Australia</wicri:noCountry></affiliation><affiliation wicri:level="2"><nlm:aff id="A33">Department of Medical Genetics, Sydney Children’s Hospital, Randwick, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Medical Genetics, Sydney Children’s Hospital, Randwick</wicri:cityArea></affiliation></author><author><name sortKey="Ziegler, John B" sort="Ziegler, John B" uniqKey="Ziegler J" first="John B" last="Ziegler">John B. Ziegler</name><affiliation wicri:level="1"><nlm:aff id="A34">University of New South Wales School of Women’s and Children’s Health, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales School of Women’s and Children’s Health, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Gray, Paul" sort="Gray, Paul" uniqKey="Gray P" first="Paul" last="Gray">Paul Gray</name><affiliation wicri:level="1"><nlm:aff id="A34">University of New South Wales School of Women’s and Children’s Health, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales School of Women’s and Children’s Health, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation><nlm:aff id="A4">Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</nlm:aff><wicri:noCountry code="subfield">EU</wicri:noCountry></affiliation></author><author><name sortKey="Grimbacher, Bodo" sort="Grimbacher, Bodo" uniqKey="Grimbacher B" first="Bodo" last="Grimbacher">Bodo Grimbacher</name><affiliation wicri:level="1"><nlm:aff id="A35">Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg</wicri:regionArea></affiliation></author><author><name sortKey="Warnatz, Klaus" sort="Warnatz, Klaus" uniqKey="Warnatz K" first="Klaus" last="Warnatz">Klaus Warnatz</name><affiliation wicri:level="1"><nlm:aff id="A35">Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg</wicri:regionArea></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M" last="Holland">Steven M. Holland</name><affiliation wicri:level="1"><nlm:aff id="A36">Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="1"><nlm:aff id="A3">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A7">St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A37">Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A38">Howard Hughes Medical Institute, NY, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Howard Hughes Medical Institute, NY</wicri:regionArea></affiliation></author><author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name><affiliation wicri:level="1"><nlm:aff id="A36">Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G" last="Tangye">Stuart G. Tangye</name><affiliation wicri:level="1"><nlm:aff id="A1">Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea></affiliation><affiliation><nlm:aff id="A2">St Vincent’s Clinical School, UNSW Australia</nlm:aff><wicri:noCountry code="subfield">UNSW Australia</wicri:noCountry></affiliation></author></analytic><series><title level="j">The Journal of allergy and clinical immunology</title><idno type="ISSN">0091-6749</idno><idno type="eISSN">1097-6825</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">T follicular helper (Tfh) cells underpin T-cell dependent humoral immunity and the success of most vaccines. Tfh cells also contribute to human immune disorders such as autoimmunity, immunodeficiency and malignancy. Understanding the molecular requirements for the generation and function of Tfh cells will provide strategies for targeting these cells to modulate their behavior in the setting of these immunological abnormalities.</p></sec><sec id="S2"><title>Objective</title><p id="P2">To determine the signaling pathways and cellular interactions required for the development and function of Tfh cells in humans.</p></sec><sec id="S3"><title>Methods</title><p id="P3">Human primary immunodeficiencies (PIDs) resulting from monogenic mutations provide a unique opportunity to assess the requirement for particular molecules in regulating human lymphocyte function. Circulating Tfh (cTfh) cell subsets, memory B cells and serum Ig levels were quantified and functionally assessed in healthy controls as well as patients with PIDs resulting from mutations in <italic>STAT3</italic>, <italic>STAT1</italic>, <italic>TYK2</italic>, <italic>IL21, IL21R</italic>, <italic>IL10R</italic>, <italic>IFNGR1/2</italic>, <italic>IL12RB1</italic>, <italic>CD40LG</italic>, <italic>NEMO</italic>, <italic>ICOS</italic> or <italic>BTK</italic>.</p></sec><sec id="S4"><title>Results</title><p id="P4">Loss-of function (LOF) mutations in <italic>STAT3</italic>, <italic>IL10R</italic>, <italic>CD40LG</italic>, <italic>NEMO</italic>, <italic>ICOS</italic> or <italic>BTK</italic> reduced cTfh frequencies. <italic>STAT3</italic>, <italic>IL21/R</italic> LOF and <italic>STAT1</italic> gain-of function mutations skewed cTfh differentiation towards a phenotype characterized by over-expression of IFNγ and programmed death -1 (PD-1). IFNγ inhibited cTfh function <italic>in vitro</italic> and <italic>in vivo</italic>, corroborated by hypergammaglobulinemia in patients with <italic>IFNGR1/2</italic>, <italic>STAT1</italic> and <italic>IL12RB1</italic> LOF mutations.</p></sec><sec id="S5"><title>Conclusion</title><p id="P5">Specific mutations impact the quantity and quality of cTfh cells, highlighting the need to assess Tfh cells in patients by multiple criteria, including phenotype and function. Furthermore, IFNγ functions <italic>in vivo</italic> to restrain Tfh-induced B cell differentiation. These findings shed new light on Tfh biology and the integrated signaling pathways required for their generation, maintenance and effector function, and explain compromised humoral immunity in some PIDs.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">1275002</journal-id><journal-id journal-id-type="pubmed-jr-id">4431</journal-id><journal-id journal-id-type="nlm-ta">J Allergy Clin Immunol</journal-id><journal-id journal-id-type="iso-abbrev">J. Allergy Clin. Immunol.</journal-id><journal-title-group><journal-title>The Journal of allergy and clinical immunology</journal-title></journal-title-group><issn pub-type="ppub">0091-6749</issn><issn pub-type="epub">1097-6825</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26162572</article-id><article-id pub-id-type="pmc">5042203</article-id><article-id pub-id-type="doi">10.1016/j.jaci.2015.05.036</article-id><article-id pub-id-type="manuscript">NIHMS706460</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Ma</surname><given-names>Cindy S</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Wong</surname><given-names>Natalie</given-names></name><degrees>BSc Hons</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Rao</surname><given-names>Geetha</given-names></name><degrees>MSc</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Avery</surname><given-names>Danielle T</given-names></name><degrees>BApplSci</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Torpy</surname><given-names>James</given-names></name><degrees>MPhil</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Hambridge</surname><given-names>Thomas</given-names></name><degrees>BSc Hons</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bustamante</surname><given-names>Jacinta</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Okada</surname><given-names>Satoshi</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Stoddard</surname><given-names>Jennifer L</given-names></name><degrees>BS</degrees><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Deenick</surname><given-names>Elissa K</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Pelham</surname><given-names>Simon J</given-names></name><degrees>MSc</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib 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contrib-type="author"><name><surname>Mansouri</surname><given-names>Davood</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Bousfiha</surname><given-names>Aziz</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Blincoe</surname><given-names>Annaliesse K</given-names></name><degrees>BHB MBChB</degrees><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>French</surname><given-names>Martyn A</given-names></name><degrees>MB, ChB, MD, FRACP, FRCPath, FRCP</degrees><xref ref-type="aff" rid="A16">16</xref><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Hsu</surname><given-names>Peter</given-names></name><degrees>FRACP PhD</degrees><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Campbell</surname><given-names>Dianne E.</given-names></name><degrees>FRACP PhD</degrees><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Stormon</surname><given-names>Michael O</given-names></name><degrees>MBBS</degrees><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Wong</surname><given-names>Melanie</given-names></name><degrees>MBBS, PhD FRCPA</degrees><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Adelstein</surname><given-names>Stephen</given-names></name><degrees>MBBS, PhD FRACP, FRCPA</degrees><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Smart</surname><given-names>Joanne M</given-names></name><degrees>MBBS FRACP</degrees><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Fulcher</surname><given-names>David A</given-names></name><degrees>MBBS, PhD FRACP, FRCPA</degrees><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Cook</surname><given-names>Matthew C</given-names></name><degrees>MBBS, PhD FRACP, FRCPA</degrees><xref ref-type="aff" rid="A22">22</xref><xref ref-type="aff" rid="A23">23</xref><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Phan</surname><given-names>Tri G</given-names></name><degrees>MBBS PhD FRACP FRCPA</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Stepensky</surname><given-names>Polina</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Boztug</surname><given-names>Kaan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A26">26</xref><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Kansu</surname><given-names>Aydan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Ikincioğullari</surname><given-names>Aydan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Baumann</surname><given-names>Ulrich</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Beier</surname><given-names>Rita</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Roscioli</surname><given-names>Tony</given-names></name><degrees>FRACP PhD</degrees><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A32">32</xref><xref ref-type="aff" rid="A33">33</xref></contrib><contrib contrib-type="author"><name><surname>Ziegler</surname><given-names>John B</given-names></name><degrees>MD FRACP</degrees><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Gray</surname><given-names>Paul</given-names></name><degrees>FRACP</degrees><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Picard</surname><given-names>Capucine</given-names></name><degrees>MD PhD</degrees><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Grimbacher</surname><given-names>Bodo</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Warnatz</surname><given-names>Klaus</given-names></name><degrees>MD PhD</degrees><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Steven M</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A7">7</xref><xref ref-type="aff" rid="A37">37</xref><xref ref-type="aff" rid="A38">38</xref></contrib><contrib contrib-type="author"><name><surname>Uzel</surname><given-names>Gulbu</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Tangye</surname><given-names>Stuart G</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>Immunology Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia</aff><aff id="A2"><label>2</label>St Vincent’s Clinical School, UNSW Australia</aff><aff id="A3"><label>3</label>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France</aff><aff id="A4"><label>4</label>Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France, EU</aff><aff id="A5"><label>5</label>Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan</aff><aff id="A6"><label>6</label>Clinical Center, National Institutes of Health, Bethesda, Maryland, USA</aff><aff id="A7"><label>7</label>St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA</aff><aff id="A8"><label>8</label>University of Manchester, Royal Manchester Children’s Hospital, Manchester M13 9WL, England, UK</aff><aff id="A9"><label>9</label>10Department of Pediatric Immunology, Uludag University Medical Faculty, Görükle, Bursa, Turkey</aff><aff id="A10"><label>10</label>Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat, Morocco</aff><aff id="A11"><label>11</label>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan</aff><aff id="A12"><label>12</label>Division of Molecular Medicine, Institute for Genome Research, The University of Tokushima, Tokushima, Japan</aff><aff id="A13"><label>13</label>National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, 4739, Iran</aff><aff id="A14"><label>14</label>Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, 20100, Morocco</aff><aff id="A15"><label>15</label>Starship Children’s Hospital, Auckland, New Zealand</aff><aff id="A16"><label>16</label>Department of Clinical Immunology, Royal Perth Hospital, WA, Australia</aff><aff id="A17"><label>17</label>School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia;</aff><aff id="A18"><label>18</label>Children’s Hospital at Westmead, NSW, Australia</aff><aff id="A19"><label>19</label>Clinical Immunology, Royal Prince Alfred Hospital, Sydney, NSW, Australia</aff><aff id="A20"><label>20</label>Department of Allergy and Immunology, Royal Children’s Hospital Melbourne, VIC, Australia</aff><aff id="A21"><label>21</label>Department of Immunology, Westmead Hospital, University of Sydney, NSW, Australia</aff><aff id="A22"><label>22</label>Australian National University Medical School, Australian National University, ACT, Australia</aff><aff id="A23"><label>23</label>John Curtin School of Medical Research, Australian National University, ACT, Australia</aff><aff id="A24"><label>24</label>Department of Immunology, The Canberra Hospital, ACT, Australia</aff><aff id="A25"><label>25</label>Pediatric Hematology-Oncology and Bone Marrow Transplantation Hadassah, Hebrew University Medical Center, Jerusalem, Israel</aff><aff id="A26"><label>26</label>CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria</aff><aff id="A27"><label>27</label>Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Austria</aff><aff id="A28"><label>28</label>Department of Pediatric Gastroenterology, Ankara University, Ankara, Turkey</aff><aff id="A29"><label>29</label>Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara, Turkey</aff><aff id="A30"><label>30</label>Paediatric Pulmonology, Allergy and Neonatology, Hanover Medical School, Hannover, Germany</aff><aff id="A31"><label>31</label>Pediatric Haematology and Oncology, University Hospital Essen, Germany</aff><aff id="A32"><label>32</label>Kinghorn Centre for Clinical Genomics, Victoria St Darlinghurst NSW Australia</aff><aff id="A33"><label>33</label>Department of Medical Genetics, Sydney Children’s Hospital, Randwick, NSW Australia</aff><aff id="A34"><label>34</label>University of New South Wales School of Women’s and Children’s Health, NSW, Australia</aff><aff id="A35"><label>35</label>Center for Chronic Immunodeficiency, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany</aff><aff id="A36"><label>36</label>Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA</aff><aff id="A37"><label>37</label>Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France</aff><aff id="A38"><label>38</label>Howard Hughes Medical Institute, NY, USA</aff><author-notes><corresp id="FN1"><bold>Corresponding authors:</bold> Professor Stuart Tangye; Dr Cindy Ma, Immunology Division, Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst. NSW. 2010 Australia, Phone: +61 2 9295 8455; Fax: +61 2 9295 8404, <email>s.tangye@garvan.org.au</email>; <email>c.ma@garvan.org.au</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>24</day><month>9</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>07</day><month>7</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>10</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>10</month><year>2016</year></pub-date><volume>136</volume><issue>4</issue><fpage>993</fpage><lpage>1006.e1</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.jaci.2015.05.036</pmc-comment>
<abstract><sec id="S1"><title>Background</title><p id="P1">T follicular helper (Tfh) cells underpin T-cell dependent humoral immunity and the success of most vaccines. Tfh cells also contribute to human immune disorders such as autoimmunity, immunodeficiency and malignancy. Understanding the molecular requirements for the generation and function of Tfh cells will provide strategies for targeting these cells to modulate their behavior in the setting of these immunological abnormalities.</p></sec><sec id="S2"><title>Objective</title><p id="P2">To determine the signaling pathways and cellular interactions required for the development and function of Tfh cells in humans.</p></sec><sec id="S3"><title>Methods</title><p id="P3">Human primary immunodeficiencies (PIDs) resulting from monogenic mutations provide a unique opportunity to assess the requirement for particular molecules in regulating human lymphocyte function. Circulating Tfh (cTfh) cell subsets, memory B cells and serum Ig levels were quantified and functionally assessed in healthy controls as well as patients with PIDs resulting from mutations in <italic>STAT3</italic>, <italic>STAT1</italic>, <italic>TYK2</italic>, <italic>IL21, IL21R</italic>, <italic>IL10R</italic>, <italic>IFNGR1/2</italic>, <italic>IL12RB1</italic>, <italic>CD40LG</italic>, <italic>NEMO</italic>, <italic>ICOS</italic> or <italic>BTK</italic>.</p></sec><sec id="S4"><title>Results</title><p id="P4">Loss-of function (LOF) mutations in <italic>STAT3</italic>, <italic>IL10R</italic>, <italic>CD40LG</italic>, <italic>NEMO</italic>, <italic>ICOS</italic> or <italic>BTK</italic> reduced cTfh frequencies. <italic>STAT3</italic>, <italic>IL21/R</italic> LOF and <italic>STAT1</italic> gain-of function mutations skewed cTfh differentiation towards a phenotype characterized by over-expression of IFNγ and programmed death -1 (PD-1). IFNγ inhibited cTfh function <italic>in vitro</italic> and <italic>in vivo</italic>, corroborated by hypergammaglobulinemia in patients with <italic>IFNGR1/2</italic>, <italic>STAT1</italic> and <italic>IL12RB1</italic> LOF mutations.</p></sec><sec id="S5"><title>Conclusion</title><p id="P5">Specific mutations impact the quantity and quality of cTfh cells, highlighting the need to assess Tfh cells in patients by multiple criteria, including phenotype and function. Furthermore, IFNγ functions <italic>in vivo</italic> to restrain Tfh-induced B cell differentiation. These findings shed new light on Tfh biology and the integrated signaling pathways required for their generation, maintenance and effector function, and explain compromised humoral immunity in some PIDs.</p></sec></abstract><kwd-group><kwd>T follicular helper cells</kwd><kwd>humoral immunity</kwd><kwd>primary immunodeficiencies</kwd><kwd>cytokine signaling</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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