Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Identifieur interne : 000290 ( Pmc/Curation ); précédent : 000289; suivant : 000291Human 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 [ 0022-1007 ] ; 2015.
Abstract
Kreins et al. report the identification and immunological characterization of a group of TYK2-deficient patients.
Url:
DOI: 10.1084/jem.20140280
PubMed: 26304966
PubMed Central: 4577846
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<record><TEI><teiHeader><fileDesc><titleStmt><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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Weill Cornell Graduate School of Medical Sciences, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></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:aff id="aff3"><institution>Department of Pediatric Immunology, Uludağ University Faculty of Medicine, 16059 Görükle, Bursa, Turkey</institution></nlm:aff></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:aff id="aff4"><institution>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation><nlm:aff id="aff5"><institution>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama 359-0042, Japan</institution></nlm:aff></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:aff wicri:cut=" and" id="aff6"><institution>Pediatric Respiratory Diseases Research Center;</institution></nlm:aff></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation><nlm:aff id="aff7"><institution>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="aff7"><institution>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Mansouri, Davood" sort="Mansouri, Davood" uniqKey="Mansouri D" first="Davood" last="Mansouri">Davood Mansouri</name><affiliation><nlm:aff id="aff6"><institution>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</institution></nlm:aff></affiliation></author><author><name sortKey="Nievas, Elma" sort="Nievas, Elma" uniqKey="Nievas E" first="Elma" last="Nievas">Elma Nievas</name><affiliation><nlm:aff id="aff8"><institution>Immunology Unit, Pediatric Hospital A. Fleming-OSEP, Mendoza 5500, Argentina</institution></nlm:aff></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:aff id="aff9"><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>St. Vincent’s Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Rao, Geetha" sort="Rao, Geetha" uniqKey="Rao G" first="Geetha" last="Rao">Geetha Rao</name><affiliation><nlm:aff id="aff9"><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Bernasconi, Andrea" sort="Bernasconi, Andrea" uniqKey="Bernasconi A" first="Andrea" last="Bernasconi">Andrea Bernasconi</name><affiliation><nlm:aff id="aff11"><institution>Immunology and Rheumatology Service, Garrahan Hospital, Buenos Aires 1408, Argentina</institution></nlm:aff></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:aff wicri:cut=" and" id="aff12"><institution>Department of Laboratory Medicine, Clinical Center;</institution></nlm:aff></affiliation></author><author><name sortKey="Niemela, Julie" sort="Niemela, Julie" uniqKey="Niemela J" first="Julie" last="Niemela">Julie Niemela</name><affiliation><nlm:aff wicri:cut=" and" id="aff12"><institution>Department of Laboratory Medicine, Clinical Center;</institution></nlm:aff></affiliation></author><author><name sortKey="Stoddard, Jennifer" sort="Stoddard, Jennifer" uniqKey="Stoddard J" first="Jennifer" last="Stoddard">Jennifer Stoddard</name><affiliation><nlm:aff wicri:cut=" and" id="aff12"><institution>Department of Laboratory Medicine, Clinical Center;</institution></nlm:aff></affiliation></author><author><name sortKey="Deveau, Paul" sort="Deveau, Paul" uniqKey="Deveau P" first="Paul" last="Deveau">Paul Deveau</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Cobat, Aurelie" sort="Cobat, Aurelie" uniqKey="Cobat A" first="Aurelie" last="Cobat">Aurelie Cobat</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></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:aff id="aff4"><institution>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Sabri, Ayoub" sort="Sabri, Ayoub" uniqKey="Sabri A" first="Ayoub" last="Sabri">Ayoub Sabri</name><affiliation><nlm:aff id="aff4"><institution>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco</institution></nlm:aff></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:aff id="aff16"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff17"><institution>Department of Clinical Research, Singapore General Hospital, Singapore 169856</institution></nlm:aff></affiliation></author><author><name sortKey="Sundin, Mikael" sort="Sundin, Mikael" uniqKey="Sundin M" first="Mikael" last="Sundin">Mikael Sundin</name><affiliation><nlm:aff id="aff18"><institution>Pediatric Hematology/Immunology, Astrid Lindgrens Children’s Hospital and Karolinska Institutet, 141 86 Stockholm, Sweden</institution></nlm:aff></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:aff id="aff9"><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Halwani, Rabih" sort="Halwani, Rabih" uniqKey="Halwani R" first="Rabih" last="Halwani">Rabih Halwani</name><affiliation><nlm:aff id="aff19"><institution>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia</institution></nlm:aff></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:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Bogunovic, Dusan" sort="Bogunovic, Dusan" uniqKey="Bogunovic D" first="Dusan" last="Bogunovic">Dusan Bogunovic</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Group of Primary Immunodeficiencies, Institute of Biology, University of Antioquia UdeA, 1226 Medellín, Colombia</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Migaud, Melanie" sort="Migaud, Melanie" uniqKey="Migaud M" first="Melanie" last="Migaud">Melanie Migaud</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Alsina, Laia" sort="Alsina, Laia" uniqKey="Alsina L" first="Laia" last="Alsina">Laia Alsina</name><affiliation><nlm:aff wicri:cut=" and" id="aff21"><institution>Baylor Institute for Immunology Research</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>Baylor Research Institute, Dallas, TX 75204</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Allergy and Clinical Immunology Department, Hospital Sant Joan de Deu, Barcelona University, 08950 Barcelona, Spain</institution></nlm:aff></affiliation></author><author><name sortKey="Kotlarz, Daniel" sort="Kotlarz, Daniel" uniqKey="Kotlarz D" first="Daniel" last="Kotlarz">Daniel Kotlarz</name><affiliation><nlm:aff id="aff23"><institution>Department of Pediatrics, Dr. von Hauner Children’s Hospital, Ludwig Maximilians University, D-80337 Munich, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><affiliation><nlm:aff id="aff23"><institution>Department of Pediatrics, Dr. von Hauner Children’s Hospital, Ludwig Maximilians University, D-80337 Munich, Germany</institution></nlm:aff></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:aff id="aff24"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name><affiliation><nlm:aff id="aff24"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany</institution></nlm:aff></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:aff id="aff25"><institution>Department of Genetics, INSERM U1163, University Paris Descartes–Sorbonne Paris Cite, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></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:aff id="aff26"><institution>Institute of Biochemistry, University of Kiel, D-24098 Kiel, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff27"><institution>Center for the Study of Primary Immunodeficiencies, Assistance Publique–Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarstrom">Lennart Hammarstrom</name><affiliation><nlm:aff id="aff16"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></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:aff id="aff19"><institution>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia</institution></nlm:aff></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Chaussabel, Damien" sort="Chaussabel, Damien" uniqKey="Chaussabel D" first="Damien" last="Chaussabel">Damien Chaussabel</name><affiliation><nlm:aff id="aff28"><institution>Systems Biology Department, Sidra Medical and Research Center, Doha, Qatar</institution></nlm:aff></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:aff wicri:cut=" and" id="aff12"><institution>Department of Laboratory Medicine, Clinical Center;</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff12"><institution>Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Minegishi, Yoshiyuki" sort="Minegishi, Yoshiyuki" uniqKey="Minegishi Y" first="Yoshiyuki" last="Minegishi">Yoshiyuki Minegishi</name><affiliation><nlm:aff id="aff29"><institution>Department of Immune Regulation, Graduate School, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan</institution></nlm:aff></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:aff id="aff9"><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>St. Vincent’s Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff27"><institution>Center for the Study of Primary Immunodeficiencies, Assistance Publique–Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff30"><institution>Pediatric Immunology and Hematology Unit, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff31"><institution>Howard Hughes Medical Institute, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26304966</idno><idno type="pmc">4577846</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846</idno><idno type="RBID">PMC:4577846</idno><idno type="doi">10.1084/jem.20140280</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000290</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000290</idno><idno type="wicri:Area/Pmc/Curation">000290</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000290</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>Weill Cornell Graduate School of Medical Sciences, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></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:aff id="aff3"><institution>Department of Pediatric Immunology, Uludağ University Faculty of Medicine, 16059 Görükle, Bursa, Turkey</institution></nlm:aff></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:aff id="aff4"><institution>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation><nlm:aff id="aff5"><institution>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama 359-0042, Japan</institution></nlm:aff></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:aff wicri:cut=" and" id="aff6"><institution>Pediatric Respiratory Diseases Research Center;</institution></nlm:aff></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation><nlm:aff id="aff7"><institution>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="aff7"><institution>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Mansouri, Davood" sort="Mansouri, Davood" uniqKey="Mansouri D" first="Davood" last="Mansouri">Davood Mansouri</name><affiliation><nlm:aff id="aff6"><institution>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</institution></nlm:aff></affiliation></author><author><name sortKey="Nievas, Elma" sort="Nievas, Elma" uniqKey="Nievas E" first="Elma" last="Nievas">Elma Nievas</name><affiliation><nlm:aff id="aff8"><institution>Immunology Unit, Pediatric Hospital A. Fleming-OSEP, Mendoza 5500, Argentina</institution></nlm:aff></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:aff id="aff9"><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>St. Vincent’s Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Rao, Geetha" sort="Rao, Geetha" uniqKey="Rao G" first="Geetha" last="Rao">Geetha Rao</name><affiliation><nlm:aff id="aff9"><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Bernasconi, Andrea" sort="Bernasconi, Andrea" uniqKey="Bernasconi A" first="Andrea" last="Bernasconi">Andrea Bernasconi</name><affiliation><nlm:aff id="aff11"><institution>Immunology and Rheumatology Service, Garrahan Hospital, Buenos Aires 1408, Argentina</institution></nlm:aff></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:aff wicri:cut=" and" id="aff12"><institution>Department of Laboratory Medicine, Clinical Center;</institution></nlm:aff></affiliation></author><author><name sortKey="Niemela, Julie" sort="Niemela, Julie" uniqKey="Niemela J" first="Julie" last="Niemela">Julie Niemela</name><affiliation><nlm:aff wicri:cut=" and" id="aff12"><institution>Department of Laboratory Medicine, Clinical Center;</institution></nlm:aff></affiliation></author><author><name sortKey="Stoddard, Jennifer" sort="Stoddard, Jennifer" uniqKey="Stoddard J" first="Jennifer" last="Stoddard">Jennifer Stoddard</name><affiliation><nlm:aff wicri:cut=" and" id="aff12"><institution>Department of Laboratory Medicine, Clinical Center;</institution></nlm:aff></affiliation></author><author><name sortKey="Deveau, Paul" sort="Deveau, Paul" uniqKey="Deveau P" first="Paul" last="Deveau">Paul Deveau</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Cobat, Aurelie" sort="Cobat, Aurelie" uniqKey="Cobat A" first="Aurelie" last="Cobat">Aurelie Cobat</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></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:aff id="aff4"><institution>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Sabri, Ayoub" sort="Sabri, Ayoub" uniqKey="Sabri A" first="Ayoub" last="Sabri">Ayoub Sabri</name><affiliation><nlm:aff id="aff4"><institution>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco</institution></nlm:aff></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:aff id="aff16"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff17"><institution>Department of Clinical Research, Singapore General Hospital, Singapore 169856</institution></nlm:aff></affiliation></author><author><name sortKey="Sundin, Mikael" sort="Sundin, Mikael" uniqKey="Sundin M" first="Mikael" last="Sundin">Mikael Sundin</name><affiliation><nlm:aff id="aff18"><institution>Pediatric Hematology/Immunology, Astrid Lindgrens Children’s Hospital and Karolinska Institutet, 141 86 Stockholm, Sweden</institution></nlm:aff></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:aff id="aff9"><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Halwani, Rabih" sort="Halwani, Rabih" uniqKey="Halwani R" first="Rabih" last="Halwani">Rabih Halwani</name><affiliation><nlm:aff id="aff19"><institution>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia</institution></nlm:aff></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:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Bogunovic, Dusan" sort="Bogunovic, Dusan" uniqKey="Bogunovic D" first="Dusan" last="Bogunovic">Dusan Bogunovic</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Group of Primary Immunodeficiencies, Institute of Biology, University of Antioquia UdeA, 1226 Medellín, Colombia</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Migaud, Melanie" sort="Migaud, Melanie" uniqKey="Migaud M" first="Melanie" last="Migaud">Melanie Migaud</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Alsina, Laia" sort="Alsina, Laia" uniqKey="Alsina L" first="Laia" last="Alsina">Laia Alsina</name><affiliation><nlm:aff wicri:cut=" and" id="aff21"><institution>Baylor Institute for Immunology Research</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>Baylor Research Institute, Dallas, TX 75204</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Allergy and Clinical Immunology Department, Hospital Sant Joan de Deu, Barcelona University, 08950 Barcelona, Spain</institution></nlm:aff></affiliation></author><author><name sortKey="Kotlarz, Daniel" sort="Kotlarz, Daniel" uniqKey="Kotlarz D" first="Daniel" last="Kotlarz">Daniel Kotlarz</name><affiliation><nlm:aff id="aff23"><institution>Department of Pediatrics, Dr. von Hauner Children’s Hospital, Ludwig Maximilians University, D-80337 Munich, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><affiliation><nlm:aff id="aff23"><institution>Department of Pediatrics, Dr. von Hauner Children’s Hospital, Ludwig Maximilians University, D-80337 Munich, Germany</institution></nlm:aff></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:aff id="aff24"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name><affiliation><nlm:aff id="aff24"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany</institution></nlm:aff></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:aff id="aff25"><institution>Department of Genetics, INSERM U1163, University Paris Descartes–Sorbonne Paris Cite, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></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:aff id="aff26"><institution>Institute of Biochemistry, University of Kiel, D-24098 Kiel, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff27"><institution>Center for the Study of Primary Immunodeficiencies, Assistance Publique–Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarstrom">Lennart Hammarstrom</name><affiliation><nlm:aff id="aff16"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></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:aff id="aff19"><institution>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia</institution></nlm:aff></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation><nlm:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Chaussabel, Damien" sort="Chaussabel, Damien" uniqKey="Chaussabel D" first="Damien" last="Chaussabel">Damien Chaussabel</name><affiliation><nlm:aff id="aff28"><institution>Systems Biology Department, Sidra Medical and Research Center, Doha, Qatar</institution></nlm:aff></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:aff wicri:cut=" and" id="aff12"><institution>Department of Laboratory Medicine, Clinical Center;</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff12"><institution>Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Minegishi, Yoshiyuki" sort="Minegishi, Yoshiyuki" uniqKey="Minegishi Y" first="Yoshiyuki" last="Minegishi">Yoshiyuki Minegishi</name><affiliation><nlm:aff id="aff29"><institution>Department of Immune Regulation, Graduate School, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan</institution></nlm:aff></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:aff id="aff9"><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>St. Vincent’s Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff27"><institution>Center for the Study of Primary Immunodeficiencies, Assistance Publique–Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff30"><institution>Pediatric Immunology and Hematology Unit, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff31"><institution>Howard Hughes Medical Institute, New York, NY 10065</institution></nlm:aff></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:aff id="aff1"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></nlm:aff></affiliation></author></analytic><series><title level="j">The Journal of Experimental Medicine</title><idno type="ISSN">0022-1007</idno><idno type="eISSN">1540-9538</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Kreins et al. report the identification and immunological characterization of a group of TYK2-deficient patients.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Altare, F" uniqKey="Altare F">F. 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contrib-type="author"><name><surname>Abel</surname><given-names>Laurent</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff13">15</xref><xref ref-type="aff" rid="aff14">16</xref><xref ref-type="author-notes" rid="fn3">***</xref></contrib><contrib contrib-type="author"><name><surname>Chaussabel</surname><given-names>Damien</given-names></name><xref ref-type="aff" rid="aff28">31</xref><xref ref-type="author-notes" rid="fn3">***</xref></contrib><contrib contrib-type="author"><name><surname>Rosenzweig</surname><given-names>Sergio D.</given-names></name><xref ref-type="aff" rid="aff12">13</xref><xref ref-type="aff" rid="aff12">14</xref><xref ref-type="author-notes" rid="fn3">***</xref></contrib><contrib contrib-type="author"><name><surname>Minegishi</surname><given-names>Yoshiyuki</given-names></name><xref ref-type="aff" rid="aff29">32</xref><xref ref-type="author-notes" rid="fn3">***</xref></contrib><contrib contrib-type="author"><name><surname>Tangye</surname><given-names>Stuart G.</given-names></name><xref ref-type="aff" rid="aff9">10</xref><xref ref-type="aff" rid="aff10">11</xref><xref ref-type="author-notes" rid="fn3">***</xref></contrib><contrib contrib-type="author"><name><surname>Bustamante</surname><given-names>Jacinta</given-names></name><xref ref-type="aff" rid="aff13">15</xref><xref ref-type="aff" rid="aff14">16</xref><xref ref-type="aff" rid="aff27">30</xref><xref ref-type="author-notes" rid="fn3">***</xref></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff13">15</xref><xref ref-type="aff" rid="aff14">16</xref><xref ref-type="aff" rid="aff30">33</xref><xref ref-type="aff" rid="aff31">34</xref><xref ref-type="author-notes" rid="fn4">****</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Boisson-Dupuis</surname><given-names>Stéphanie</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff13">15</xref><xref ref-type="aff" rid="aff14">16</xref><xref ref-type="author-notes" rid="fn4">****</xref></contrib></contrib-group><aff id="aff1"><label>1</label><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></aff><aff id="aff2"><label>2</label><institution>Weill Cornell Graduate School of Medical Sciences, New York, NY 10065</institution></aff><aff id="aff3"><label>3</label><institution>Department of Pediatric Immunology, Uludağ University Faculty of Medicine, 16059 Görükle, Bursa, Turkey</institution></aff><aff id="aff4"><label>4</label><institution>Genetics Unit, Military Hospital Mohamed V, Hay Riad, 10100 Rabat, Morocco</institution></aff><aff id="aff5"><label>5</label><institution>Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama 359-0042, Japan</institution></aff><aff id="aff6"><label>6</label><institution>Pediatric Respiratory Diseases Research Center;</institution> and<label>7</label><institution>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</institution></aff><aff id="aff7"><label>8</label><institution>Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, CHU Ibn Rochd, 20000 Casablanca, Morocco</institution></aff><aff id="aff8"><label>9</label><institution>Immunology Unit, Pediatric Hospital A. Fleming-OSEP, Mendoza 5500, Argentina</institution></aff><aff id="aff9"><label>10</label><institution>Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia</institution></aff><aff id="aff10"><label>11</label><institution>St. Vincent’s Clinical School, University of New South Wales, Darlinghurst, New South Wales 2010, Australia</institution></aff><aff id="aff11"><label>12</label><institution>Immunology and Rheumatology Service, Garrahan Hospital, Buenos Aires 1408, Argentina</institution></aff><aff id="aff12"><label>13</label><institution>Department of Laboratory Medicine, Clinical Center;</institution> and<label>14</label><institution>Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases; National Institutes of Health, Bethesda, MD 20892</institution></aff><aff id="aff13"><label>15</label><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France</institution></aff><aff id="aff14"><label>16</label><institution>University Paris Descartes, Imagine Institute, 75006 Paris, France</institution></aff><aff id="aff15"><label>17</label><institution>Faculty of Science-Kenitra, Ibn Tofaïl University, 14000 Kenitra, Morocco</institution></aff><aff id="aff16"><label>18</label><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 52 Stockholm, Sweden</institution></aff><aff id="aff17"><label>19</label><institution>Department of Clinical Research, Singapore General Hospital, Singapore 169856</institution></aff><aff id="aff18"><label>20</label><institution>Pediatric Hematology/Immunology, Astrid Lindgrens Children’s Hospital and Karolinska Institutet, 141 86 Stockholm, Sweden</institution></aff><aff id="aff19"><label>21</label><institution>Asthma Research Chair and Prince Naif Center for Immunology Research, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia</institution></aff><aff id="aff20"><label>22</label><institution>Group of Primary Immunodeficiencies, Institute of Biology, University of Antioquia UdeA, 1226 Medellín, Colombia</institution></aff><aff id="aff21"><label>23</label><institution>Baylor Institute for Immunology Research</institution> and<label>24</label><institution>Baylor Research Institute, Dallas, TX 75204</institution></aff><aff id="aff22"><label>25</label><institution>Allergy and Clinical Immunology Department, Hospital Sant Joan de Deu, Barcelona University, 08950 Barcelona, Spain</institution></aff><aff id="aff23"><label>26</label><institution>Department of Pediatrics, Dr. von Hauner Children’s Hospital, Ludwig Maximilians University, D-80337 Munich, Germany</institution></aff><aff id="aff24"><label>27</label><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, D-91054 Erlangen, Germany</institution></aff><aff id="aff25"><label>28</label><institution>Department of Genetics, INSERM U1163, University Paris Descartes–Sorbonne Paris Cite, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France</institution></aff><aff id="aff26"><label>29</label><institution>Institute of Biochemistry, University of Kiel, D-24098 Kiel, Germany</institution></aff><aff id="aff27"><label>30</label><institution>Center for the Study of Primary Immunodeficiencies, Assistance Publique–Hôpitaux de Paris, Necker Enfants Malades Hospital, 75015 Paris, France</institution></aff><aff id="aff28"><label>31</label><institution>Systems Biology Department, Sidra Medical and Research Center, Doha, Qatar</institution></aff><aff id="aff29"><label>32</label><institution>Department of Immune Regulation, Graduate School, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo 113-8510, Japan</institution></aff><aff id="aff30"><label>33</label><institution>Pediatric Immunology and Hematology Unit, Necker Enfants Malades Hospital, 75015 Paris, France</institution></aff><aff id="aff31"><label>34</label><institution>Howard Hughes Medical Institute, New York, NY 10065</institution></aff><author-notes><corresp>CORRESPONDENCE Stéphanie Boisson-Dupuis: <email>stbo603@rockefeller.edu</email></corresp><fn id="fn1"><label>*</label><p>M.J. Ciancanelli, S. Okada, X.-F. Kong, and N. Ramírez-Alejo contributed equally to this paper.</p></fn><fn id="fn2"><label>**</label><p>S.S. Kilic, J. El Baghdadi, S. Nonoyama, S.A. Mahdaviani, F. Ailal, A. Bousfiha, D. Mansouri, and E. Nievas contributed equally to this paper.</p></fn><fn id="fn3"><label>***</label><p>L. Hammarstrom, A. Puel, S. Al-Muhsen, L. Abel, D. Chaussabel, S.D. Rosenzweig, Y. Minegishi, S.G. Tangye, and J. Bustamante contributed equally to this paper.</p></fn><fn id="fn4"><label>****</label><p>J.-L. Casanova and S. Boisson-Dupuis contributed equally to this paper.</p></fn></author-notes><pub-date pub-type="ppub"><day>21</day><month>9</month><year>2015</year></pub-date><volume>212</volume><issue>10</issue><fpage>1641</fpage><lpage>1662</lpage><history><date date-type="received"><day>11</day><month>2</month><year>2014</year></date><date date-type="accepted"><day>4</day><month>8</month><year>2015</year></date></history><permissions><copyright-statement>© 2015 Kreins et al.</copyright-statement><copyright-year>2015</copyright-year><license license-type="openaccess"><license-p>This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see <ext-link ext-link-type="uri" xlink:href="http://www.rupress.org/terms">http://www.rupress.org/terms</ext-link>). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 3.0 Unported license, as described at <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0/">http://creativecommons.org/licenses/by-nc-sa/3.0/</ext-link>).</license-p></license></permissions><self-uri xlink:role="icon" xlink:href="JEM_20140280_thumb.gif"></self-uri><abstract abstract-type="precis"><p>Kreins et al. report the identification and immunological characterization of a group of TYK2-deficient patients.</p></abstract><abstract><p>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<sup>+</sup> 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 <italic>TYK2</italic> or the silencing of endogenous <italic>TYK2</italic> did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the <italic>TYK2</italic> 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.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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