Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
Identifieur interne : 002944 ( PubMed/Corpus ); précédent : 002943; suivant : 002945Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
Auteurs : Alexandra Y. Kreins ; Michael J. Ciancanelli ; Satoshi Okada ; Xiao-Fei Kong ; Noé Ramírez-Alejo ; Sara Sebnem Kilic ; Jamila El Baghdadi ; Shigeaki Nonoyama ; Seyed Alireza Mahdaviani ; Fatima Ailal ; Aziz Bousfiha ; Davood Mansouri ; Elma Nievas ; Cindy S. Ma ; Geetha Rao ; Andrea Bernasconi ; Hye Sun Kuehn ; Julie Niemela ; Jennifer Stoddard ; Paul Deveau ; Aurelie Cobat ; Safa El Azbaoui ; Ayoub Sabri ; Che Kang Lim ; Mikael Sundin ; Danielle T. Avery ; Rabih Halwani ; Audrey V. Grant ; Bertrand Boisson ; Dusan Bogunovic ; Yuval Itan ; Marcela Moncada-Velez ; Ruben Martinez-Barricarte ; Melanie Migaud ; Caroline Deswarte ; Laia Alsina ; Daniel Kotlarz ; Christoph Klein ; Ingrid Muller-Fleckenstein ; Bernhard Fleckenstein ; Valerie Cormier-Daire ; Stefan Rose-John ; Capucine Picard ; Lennart Hammarstrom ; Anne Puel ; Saleh Al-Muhsen ; Laurent Abel ; Damien Chaussabel ; Sergio D. Rosenzweig ; Yoshiyuki Minegishi ; Stuart G. Tangye ; Jacinta Bustamante ; Jean-Laurent Casanova ; Stéphanie Boisson-DupuisSource :
- The Journal of experimental medicine [ 1540-9538 ] ; 2015.
English descriptors
- KwdEn :
- Adolescent, Case-Control Studies, Child, Child, Preschool, Female, Humans, Infant, Interferon-gamma (metabolism), Interleukin-10 (pharmacology), Interleukin-12 (metabolism), Interleukin-12 (pharmacology), Interleukin-23 (pharmacology), Interleukin-6 (pharmacology), Job Syndrome (complications), Job Syndrome (etiology), Job Syndrome (genetics), Leukocytes (drug effects), Leukocytes (metabolism), Male, Mutation, Mycobacterium Infections (etiology), T-Lymphocytes (metabolism), T-Lymphocytes (pathology), TYK2 Kinase (deficiency), TYK2 Kinase (genetics), TYK2 Kinase (metabolism), Virus Diseases (etiology), Young Adult.
- MESH :
- chemical , deficiency : TYK2 Kinase.
- chemical , genetics : TYK2 Kinase.
- chemical , metabolism : Interferon-gamma, Interleukin-12, TYK2 Kinase.
- chemical , pharmacology : Interleukin-10, Interleukin-12, Interleukin-23, Interleukin-6.
- complications : Job Syndrome.
- drug effects : Leukocytes.
- etiology : Job Syndrome, Mycobacterium Infections, Virus Diseases.
- genetics : Job Syndrome.
- metabolism : Leukocytes, T-Lymphocytes.
- pathology : T-Lymphocytes.
- Adolescent, Case-Control Studies, Child, Child, Preschool, Female, Humans, Infant, Male, Mutation, Young Adult.
Abstract
Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17(+) T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.
DOI: 10.1084/jem.20140280
PubMed: 26304966
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pubmed:26304966Le document en format XML
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<author><name sortKey="Kreins, Alexandra Y" sort="Kreins, Alexandra Y" uniqKey="Kreins A" first="Alexandra Y" last="Kreins">Alexandra Y. Kreins</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Weill Cornell Graduate School of Medical Sciences, New York, NY 10065.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Ciancanelli, Michael J" sort="Ciancanelli, Michael J" uniqKey="Ciancanelli M" first="Michael J" last="Ciancanelli">Michael J. Ciancanelli</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kong, Xiao Fei" sort="Kong, Xiao Fei" uniqKey="Kong X" first="Xiao-Fei" last="Kong">Xiao-Fei Kong</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ramirez Alejo, Noe" sort="Ramirez Alejo, Noe" uniqKey="Ramirez Alejo N" first="Noé" last="Ramírez-Alejo">Noé Ramírez-Alejo</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</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><nlm:affiliation>Department of Pediatric Immunology, Uludağ University Faculty of Medicine, 16059 Görükle, Bursa, Turkey.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="El Baghdadi, Jamila" sort="El Baghdadi, Jamila" uniqKey="El Baghdadi J" first="Jamila" last="El Baghdadi">Jamila El Baghdadi</name>
<affiliation><nlm:affiliation>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name>
<affiliation><nlm:affiliation>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama 359-0042, Japan.</nlm:affiliation>
</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><nlm:affiliation>Pediatric Respiratory Diseases Research Center; and Department of Clinical Immunology and Infectious Diseases, Masih Daneshvari Hospital; National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, 141556153 Tehran, Iran.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name>
<affiliation><nlm:affiliation>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name>
<affiliation><nlm:affiliation>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mansouri, Davood" sort="Mansouri, Davood" uniqKey="Mansouri D" first="Davood" last="Mansouri">Davood Mansouri</name>
<affiliation><nlm:affiliation>Pediatric Respiratory Diseases Research Center; and Department of Clinical Immunology and Infectious Diseases, Masih Daneshvari Hospital; National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, 141556153 Tehran, Iran.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nievas, Elma" sort="Nievas, Elma" uniqKey="Nievas E" first="Elma" last="Nievas">Elma Nievas</name>
<affiliation><nlm:affiliation>Immunology Unit, Pediatric Hospital A. Fleming-OSEP, Mendoza 5500, Argentina.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S" last="Ma">Cindy S. Ma</name>
<affiliation><nlm:affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rao, Geetha" sort="Rao, Geetha" uniqKey="Rao G" first="Geetha" last="Rao">Geetha Rao</name>
<affiliation><nlm:affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bernasconi, Andrea" sort="Bernasconi, Andrea" uniqKey="Bernasconi A" first="Andrea" last="Bernasconi">Andrea Bernasconi</name>
<affiliation><nlm:affiliation>Immunology and Rheumatology Service, Garrahan Hospital, Buenos Aires 1408, Argentina.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sun Kuehn, Hye" sort="Sun Kuehn, Hye" uniqKey="Sun Kuehn H" first="Hye" last="Sun Kuehn">Hye Sun Kuehn</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Niemela, Julie" sort="Niemela, Julie" uniqKey="Niemela J" first="Julie" last="Niemela">Julie Niemela</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Stoddard, Jennifer" sort="Stoddard, Jennifer" uniqKey="Stoddard J" first="Jennifer" last="Stoddard">Jennifer Stoddard</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Deveau, Paul" sort="Deveau, Paul" uniqKey="Deveau P" first="Paul" last="Deveau">Paul Deveau</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Cobat, Aurelie" sort="Cobat, Aurelie" uniqKey="Cobat A" first="Aurelie" last="Cobat">Aurelie Cobat</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="El Azbaoui, Safa" sort="El Azbaoui, Safa" uniqKey="El Azbaoui S" first="Safa" last="El Azbaoui">Safa El Azbaoui</name>
<affiliation><nlm:affiliation>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sabri, Ayoub" sort="Sabri, Ayoub" uniqKey="Sabri A" first="Ayoub" last="Sabri">Ayoub Sabri</name>
<affiliation><nlm:affiliation>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lim, Che Kang" sort="Lim, Che Kang" uniqKey="Lim C" first="Che Kang" last="Lim">Che Kang Lim</name>
<affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden Department of Clinical Research, Singapore General Hospital, Singapore 169856.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sundin, Mikael" sort="Sundin, Mikael" uniqKey="Sundin M" first="Mikael" last="Sundin">Mikael Sundin</name>
<affiliation><nlm:affiliation>Pediatric Hematology/Immunology, Astrid Lindgrens Children's Hospital and Karolinska Institutet, 141 86 Stockholm, Sweden.</nlm:affiliation>
</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><nlm:affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Halwani, Rabih" sort="Halwani, Rabih" uniqKey="Halwani R" first="Rabih" last="Halwani">Rabih Halwani</name>
<affiliation><nlm:affiliation>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Grant, Audrey V" sort="Grant, Audrey V" uniqKey="Grant A" first="Audrey V" last="Grant">Audrey V. Grant</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bogunovic, Dusan" sort="Bogunovic, Dusan" uniqKey="Bogunovic D" first="Dusan" last="Bogunovic">Dusan Bogunovic</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Moncada Velez, Marcela" sort="Moncada Velez, Marcela" uniqKey="Moncada Velez M" first="Marcela" last="Moncada-Velez">Marcela Moncada-Velez</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Group of Primary Immunodeficiencies, Institute of Biology, University of Antioquia UdeA, 1226 Medellín, Colombia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Martinez Barricarte, Ruben" sort="Martinez Barricarte, Ruben" uniqKey="Martinez Barricarte R" first="Ruben" last="Martinez-Barricarte">Ruben Martinez-Barricarte</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Migaud, Melanie" sort="Migaud, Melanie" uniqKey="Migaud M" first="Melanie" last="Migaud">Melanie Migaud</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Alsina, Laia" sort="Alsina, Laia" uniqKey="Alsina L" first="Laia" last="Alsina">Laia Alsina</name>
<affiliation><nlm:affiliation>Baylor Institute for Immunology Research and Baylor Research Institute, Dallas, TX 75204 Baylor Institute for Immunology Research and Baylor Research Institute, Dallas, TX 75204 Allergy and Clinical Immunology Department, Hospital Sant Joan de Deu, Barcelona University, 08950 Barcelona, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kotlarz, Daniel" sort="Kotlarz, Daniel" uniqKey="Kotlarz D" first="Daniel" last="Kotlarz">Daniel Kotlarz</name>
<affiliation><nlm:affiliation>Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, D-80337 Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name>
<affiliation><nlm:affiliation>Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, D-80337 Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Muller Fleckenstein, Ingrid" sort="Muller Fleckenstein, Ingrid" uniqKey="Muller Fleckenstein I" first="Ingrid" last="Muller-Fleckenstein">Ingrid Muller-Fleckenstein</name>
<affiliation><nlm:affiliation>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name>
<affiliation><nlm:affiliation>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
<affiliation><nlm:affiliation>Department of Genetics, INSERM U1163, University Paris Descartes-Sorbonne Paris Cite, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rose John, Stefan" sort="Rose John, Stefan" uniqKey="Rose John S" first="Stefan" last="Rose-John">Stefan Rose-John</name>
<affiliation><nlm:affiliation>Institute of Biochemistry, University of Kiel, D-24098 Kiel, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarstrom">Lennart Hammarstrom</name>
<affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Al Muhsen, Saleh" sort="Al Muhsen, Saleh" uniqKey="Al Muhsen S" first="Saleh" last="Al-Muhsen">Saleh Al-Muhsen</name>
<affiliation><nlm:affiliation>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Chaussabel, Damien" sort="Chaussabel, Damien" uniqKey="Chaussabel D" first="Damien" last="Chaussabel">Damien Chaussabel</name>
<affiliation><nlm:affiliation>Systems Biology Department, Sidra Medical and Research Center, Doha, Qatar.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rosenzweig, Sergio D" sort="Rosenzweig, Sergio D" uniqKey="Rosenzweig S" first="Sergio D" last="Rosenzweig">Sergio D. Rosenzweig</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892 Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Minegishi, Yoshiyuki" sort="Minegishi, Yoshiyuki" uniqKey="Minegishi Y" first="Yoshiyuki" last="Minegishi">Yoshiyuki Minegishi</name>
<affiliation><nlm:affiliation>Department of Immune Regulation, Graduate School, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan.</nlm:affiliation>
</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><nlm:affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France.</nlm:affiliation>
</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><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France Pediatric Immunology and Hematology Unit, Necker Enfants Malades Hospital, 75015 Paris, France Howard Hughes Medical Institute, New York, NY 10065.</nlm:affiliation>
</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><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France stbo603@rockefeller.edu.</nlm:affiliation>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2015">2015</date>
<idno type="RBID">pubmed:26304966</idno>
<idno type="pmid">26304966</idno>
<idno type="doi">10.1084/jem.20140280</idno>
<idno type="wicri:Area/PubMed/Corpus">002944</idno>
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</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.</title>
<author><name sortKey="Kreins, Alexandra Y" sort="Kreins, Alexandra Y" uniqKey="Kreins A" first="Alexandra Y" last="Kreins">Alexandra Y. Kreins</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Weill Cornell Graduate School of Medical Sciences, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ciancanelli, Michael J" sort="Ciancanelli, Michael J" uniqKey="Ciancanelli M" first="Michael J" last="Ciancanelli">Michael J. Ciancanelli</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kong, Xiao Fei" sort="Kong, Xiao Fei" uniqKey="Kong X" first="Xiao-Fei" last="Kong">Xiao-Fei Kong</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ramirez Alejo, Noe" sort="Ramirez Alejo, Noe" uniqKey="Ramirez Alejo N" first="Noé" last="Ramírez-Alejo">Noé Ramírez-Alejo</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</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><nlm:affiliation>Department of Pediatric Immunology, Uludağ University Faculty of Medicine, 16059 Görükle, Bursa, Turkey.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="El Baghdadi, Jamila" sort="El Baghdadi, Jamila" uniqKey="El Baghdadi J" first="Jamila" last="El Baghdadi">Jamila El Baghdadi</name>
<affiliation><nlm:affiliation>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name>
<affiliation><nlm:affiliation>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama 359-0042, Japan.</nlm:affiliation>
</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><nlm:affiliation>Pediatric Respiratory Diseases Research Center; and Department of Clinical Immunology and Infectious Diseases, Masih Daneshvari Hospital; National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, 141556153 Tehran, Iran.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name>
<affiliation><nlm:affiliation>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name>
<affiliation><nlm:affiliation>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Mansouri, Davood" sort="Mansouri, Davood" uniqKey="Mansouri D" first="Davood" last="Mansouri">Davood Mansouri</name>
<affiliation><nlm:affiliation>Pediatric Respiratory Diseases Research Center; and Department of Clinical Immunology and Infectious Diseases, Masih Daneshvari Hospital; National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, 141556153 Tehran, Iran.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Nievas, Elma" sort="Nievas, Elma" uniqKey="Nievas E" first="Elma" last="Nievas">Elma Nievas</name>
<affiliation><nlm:affiliation>Immunology Unit, Pediatric Hospital A. Fleming-OSEP, Mendoza 5500, Argentina.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S" last="Ma">Cindy S. Ma</name>
<affiliation><nlm:affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rao, Geetha" sort="Rao, Geetha" uniqKey="Rao G" first="Geetha" last="Rao">Geetha Rao</name>
<affiliation><nlm:affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bernasconi, Andrea" sort="Bernasconi, Andrea" uniqKey="Bernasconi A" first="Andrea" last="Bernasconi">Andrea Bernasconi</name>
<affiliation><nlm:affiliation>Immunology and Rheumatology Service, Garrahan Hospital, Buenos Aires 1408, Argentina.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sun Kuehn, Hye" sort="Sun Kuehn, Hye" uniqKey="Sun Kuehn H" first="Hye" last="Sun Kuehn">Hye Sun Kuehn</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Niemela, Julie" sort="Niemela, Julie" uniqKey="Niemela J" first="Julie" last="Niemela">Julie Niemela</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Stoddard, Jennifer" sort="Stoddard, Jennifer" uniqKey="Stoddard J" first="Jennifer" last="Stoddard">Jennifer Stoddard</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Deveau, Paul" sort="Deveau, Paul" uniqKey="Deveau P" first="Paul" last="Deveau">Paul Deveau</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Cobat, Aurelie" sort="Cobat, Aurelie" uniqKey="Cobat A" first="Aurelie" last="Cobat">Aurelie Cobat</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="El Azbaoui, Safa" sort="El Azbaoui, Safa" uniqKey="El Azbaoui S" first="Safa" last="El Azbaoui">Safa El Azbaoui</name>
<affiliation><nlm:affiliation>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sabri, Ayoub" sort="Sabri, Ayoub" uniqKey="Sabri A" first="Ayoub" last="Sabri">Ayoub Sabri</name>
<affiliation><nlm:affiliation>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lim, Che Kang" sort="Lim, Che Kang" uniqKey="Lim C" first="Che Kang" last="Lim">Che Kang Lim</name>
<affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden Department of Clinical Research, Singapore General Hospital, Singapore 169856.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sundin, Mikael" sort="Sundin, Mikael" uniqKey="Sundin M" first="Mikael" last="Sundin">Mikael Sundin</name>
<affiliation><nlm:affiliation>Pediatric Hematology/Immunology, Astrid Lindgrens Children's Hospital and Karolinska Institutet, 141 86 Stockholm, Sweden.</nlm:affiliation>
</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><nlm:affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Halwani, Rabih" sort="Halwani, Rabih" uniqKey="Halwani R" first="Rabih" last="Halwani">Rabih Halwani</name>
<affiliation><nlm:affiliation>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Grant, Audrey V" sort="Grant, Audrey V" uniqKey="Grant A" first="Audrey V" last="Grant">Audrey V. Grant</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bogunovic, Dusan" sort="Bogunovic, Dusan" uniqKey="Bogunovic D" first="Dusan" last="Bogunovic">Dusan Bogunovic</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Moncada Velez, Marcela" sort="Moncada Velez, Marcela" uniqKey="Moncada Velez M" first="Marcela" last="Moncada-Velez">Marcela Moncada-Velez</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Group of Primary Immunodeficiencies, Institute of Biology, University of Antioquia UdeA, 1226 Medellín, Colombia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Martinez Barricarte, Ruben" sort="Martinez Barricarte, Ruben" uniqKey="Martinez Barricarte R" first="Ruben" last="Martinez-Barricarte">Ruben Martinez-Barricarte</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Migaud, Melanie" sort="Migaud, Melanie" uniqKey="Migaud M" first="Melanie" last="Migaud">Melanie Migaud</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Alsina, Laia" sort="Alsina, Laia" uniqKey="Alsina L" first="Laia" last="Alsina">Laia Alsina</name>
<affiliation><nlm:affiliation>Baylor Institute for Immunology Research and Baylor Research Institute, Dallas, TX 75204 Baylor Institute for Immunology Research and Baylor Research Institute, Dallas, TX 75204 Allergy and Clinical Immunology Department, Hospital Sant Joan de Deu, Barcelona University, 08950 Barcelona, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kotlarz, Daniel" sort="Kotlarz, Daniel" uniqKey="Kotlarz D" first="Daniel" last="Kotlarz">Daniel Kotlarz</name>
<affiliation><nlm:affiliation>Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, D-80337 Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name>
<affiliation><nlm:affiliation>Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, D-80337 Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Muller Fleckenstein, Ingrid" sort="Muller Fleckenstein, Ingrid" uniqKey="Muller Fleckenstein I" first="Ingrid" last="Muller-Fleckenstein">Ingrid Muller-Fleckenstein</name>
<affiliation><nlm:affiliation>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name>
<affiliation><nlm:affiliation>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
<affiliation><nlm:affiliation>Department of Genetics, INSERM U1163, University Paris Descartes-Sorbonne Paris Cite, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rose John, Stefan" sort="Rose John, Stefan" uniqKey="Rose John S" first="Stefan" last="Rose-John">Stefan Rose-John</name>
<affiliation><nlm:affiliation>Institute of Biochemistry, University of Kiel, D-24098 Kiel, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarstrom">Lennart Hammarstrom</name>
<affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Al Muhsen, Saleh" sort="Al Muhsen, Saleh" uniqKey="Al Muhsen S" first="Saleh" last="Al-Muhsen">Saleh Al-Muhsen</name>
<affiliation><nlm:affiliation>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Chaussabel, Damien" sort="Chaussabel, Damien" uniqKey="Chaussabel D" first="Damien" last="Chaussabel">Damien Chaussabel</name>
<affiliation><nlm:affiliation>Systems Biology Department, Sidra Medical and Research Center, Doha, Qatar.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rosenzweig, Sergio D" sort="Rosenzweig, Sergio D" uniqKey="Rosenzweig S" first="Sergio D" last="Rosenzweig">Sergio D. Rosenzweig</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892 Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Minegishi, Yoshiyuki" sort="Minegishi, Yoshiyuki" uniqKey="Minegishi Y" first="Yoshiyuki" last="Minegishi">Yoshiyuki Minegishi</name>
<affiliation><nlm:affiliation>Department of Immune Regulation, Graduate School, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan.</nlm:affiliation>
</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><nlm:affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
<affiliation><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France.</nlm:affiliation>
</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><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France Pediatric Immunology and Hematology Unit, Necker Enfants Malades Hospital, 75015 Paris, France Howard Hughes Medical Institute, New York, NY 10065.</nlm:affiliation>
</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><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France stbo603@rockefeller.edu.</nlm:affiliation>
</affiliation>
</author>
</analytic>
<series><title level="j">The Journal of experimental medicine</title>
<idno type="eISSN">1540-9538</idno>
<imprint><date when="2015" type="published">2015</date>
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<front><div type="abstract" xml:lang="en">Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17(+) T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26304966</PMID>
<DateCreated><Year>2015</Year>
<Month>09</Month>
<Day>22</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>04</Month>
<Day>25</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>09</Month>
<Day>22</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1540-9538</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>212</Volume>
<Issue>10</Issue>
<PubDate><Year>2015</Year>
<Month>Sep</Month>
<Day>21</Day>
</PubDate>
</JournalIssue>
<Title>The Journal of experimental medicine</Title>
<ISOAbbreviation>J. Exp. Med.</ISOAbbreviation>
</Journal>
<ArticleTitle>Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.</ArticleTitle>
<Pagination><MedlinePgn>1641-62</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1084/jem.20140280</ELocationID>
<Abstract><AbstractText>Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17(+) T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.</AbstractText>
<CopyrightInformation>© 2015 Kreins et al.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kreins</LastName>
<ForeName>Alexandra Y</ForeName>
<Initials>AY</Initials>
<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Weill Cornell Graduate School of Medical Sciences, New York, NY 10065.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Ciancanelli</LastName>
<ForeName>Michael J</ForeName>
<Initials>MJ</Initials>
<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Okada</LastName>
<ForeName>Satoshi</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Kong</LastName>
<ForeName>Xiao-Fei</ForeName>
<Initials>XF</Initials>
<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ramírez-Alejo</LastName>
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<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Kilic</LastName>
<ForeName>Sara Sebnem</ForeName>
<Initials>SS</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Immunology, Uludağ University Faculty of Medicine, 16059 Görükle, Bursa, Turkey.</Affiliation>
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</Author>
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<ForeName>Jamila</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco.</Affiliation>
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<Author ValidYN="Y"><LastName>Nonoyama</LastName>
<ForeName>Shigeaki</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama 359-0042, Japan.</Affiliation>
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<ForeName>Seyed Alireza</ForeName>
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<AffiliationInfo><Affiliation>Pediatric Respiratory Diseases Research Center; and Department of Clinical Immunology and Infectious Diseases, Masih Daneshvari Hospital; National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, 141556153 Tehran, Iran.</Affiliation>
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<Author ValidYN="Y"><LastName>Ailal</LastName>
<ForeName>Fatima</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco.</Affiliation>
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<ForeName>Aziz</ForeName>
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<AffiliationInfo><Affiliation>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco.</Affiliation>
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<AffiliationInfo><Affiliation>Pediatric Respiratory Diseases Research Center; and Department of Clinical Immunology and Infectious Diseases, Masih Daneshvari Hospital; National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, 141556153 Tehran, Iran.</Affiliation>
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<AffiliationInfo><Affiliation>Immunology Unit, Pediatric Hospital A. Fleming-OSEP, Mendoza 5500, Argentina.</Affiliation>
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<ForeName>Cindy S</ForeName>
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<AffiliationInfo><Affiliation>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia.</Affiliation>
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<AffiliationInfo><Affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</Affiliation>
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<ForeName>Julie</ForeName>
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<AffiliationInfo><Affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Stoddard</LastName>
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<AffiliationInfo><Affiliation>Department of Laboratory Medicine, Clinical Center; and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892.</Affiliation>
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<Author ValidYN="Y"><LastName>Deveau</LastName>
<ForeName>Paul</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</Affiliation>
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<ForeName>Ayoub</ForeName>
<Initials>A</Initials>
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<Author ValidYN="Y"><LastName>Lim</LastName>
<ForeName>Che Kang</ForeName>
<Initials>CK</Initials>
<AffiliationInfo><Affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden Department of Clinical Research, Singapore General Hospital, Singapore 169856.</Affiliation>
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<AffiliationInfo><Affiliation>Pediatric Hematology/Immunology, Astrid Lindgrens Children's Hospital and Karolinska Institutet, 141 86 Stockholm, Sweden.</Affiliation>
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<ForeName>Danielle T</ForeName>
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<Initials>AV</Initials>
<AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</Affiliation>
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<ForeName>Bertrand</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</Affiliation>
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<Author ValidYN="Y"><LastName>Bogunovic</LastName>
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<Initials>D</Initials>
<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</Affiliation>
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<Author ValidYN="Y"><LastName>Itan</LastName>
<ForeName>Yuval</ForeName>
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<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</Affiliation>
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<ForeName>Marcela</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Group of Primary Immunodeficiencies, Institute of Biology, University of Antioquia UdeA, 1226 Medellín, Colombia.</Affiliation>
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<Author ValidYN="Y"><LastName>Martinez-Barricarte</LastName>
<ForeName>Ruben</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.</Affiliation>
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<ForeName>Melanie</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Deswarte</LastName>
<ForeName>Caroline</ForeName>
<Initials>C</Initials>
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<ForeName>Ingrid</ForeName>
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<Author ValidYN="Y"><LastName>Fleckenstein</LastName>
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<ForeName>Valerie</ForeName>
<Initials>V</Initials>
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<AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France.</Affiliation>
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<ForeName>Stuart G</ForeName>
<Initials>SG</Initials>
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<AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France Pediatric Immunology and Hematology Unit, Necker Enfants Malades Hospital, 75015 Paris, France Howard Hughes Medical Institute, New York, NY 10065.</Affiliation>
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