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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Impairment of immunity to <italic>Candida</italic> and <italic>Mycobacterium</italic> in humans with bi-allelic <italic>RORC</italic> mutations<sup><xref ref-type="fn" rid="FN3">*</xref></sup></title><author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name><affiliation><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.</nlm:aff></affiliation></author><author><name sortKey="Markle, Janet G" sort="Markle, Janet G" uniqKey="Markle J" first="Janet G." last="Markle">Janet G. Markle</name><affiliation><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation></author><author><name sortKey="Deenick, Elissa K" sort="Deenick, Elissa K" uniqKey="Deenick E" first="Elissa K." last="Deenick">Elissa K. Deenick</name><affiliation><nlm:aff id="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Mele, Federico" sort="Mele, Federico" uniqKey="Mele F" first="Federico" last="Mele">Federico Mele</name><affiliation><nlm:aff id="A5">Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</nlm:aff></affiliation></author><author><name sortKey="Averbuch, Dina" sort="Averbuch, Dina" uniqKey="Averbuch D" first="Dina" last="Averbuch">Dina Averbuch</name><affiliation><nlm:aff id="A6">Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Lagos, Macarena" sort="Lagos, Macarena" uniqKey="Lagos M" first="Macarena" last="Lagos">Macarena Lagos</name><affiliation><nlm:aff id="A7">Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.</nlm:aff></affiliation><affiliation><nlm:aff id="A8">Department of Pediatrics, Padre Hurtado Hospital and Clinica Alemana, Santiago, Chile.</nlm:aff></affiliation></author><author><name sortKey="Alzahrani, Mohammed" sort="Alzahrani, Mohammed" uniqKey="Alzahrani M" first="Mohammed" last="Alzahrani">Mohammed Alzahrani</name><affiliation><nlm:aff id="A9">Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.</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="A9">Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.</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="A10">Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.</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="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Wong, Natalie" sort="Wong, Natalie" uniqKey="Wong N" first="Natalie" last="Wong">Natalie Wong</name><affiliation><nlm:aff id="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Soudais, Claire" sort="Soudais, Claire" uniqKey="Soudais C" first="Claire" last="Soudais">Claire Soudais</name><affiliation><nlm:aff id="A11">Institut Curie, INSERM U932, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Henderson, Lauren A" sort="Henderson, Lauren A" uniqKey="Henderson L" first="Lauren A." last="Henderson">Lauren A. Henderson</name><affiliation><nlm:aff id="A12">Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.</nlm:aff></affiliation></author><author><name sortKey="Marzouqa, Hiyam" sort="Marzouqa, Hiyam" uniqKey="Marzouqa H" first="Hiyam" last="Marzouqa">Hiyam Marzouqa</name><affiliation><nlm:aff id="A13">Caritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Shamma, Jamal" sort="Shamma, Jamal" uniqKey="Shamma J" first="Jamal" last="Shamma">Jamal Shamma</name><affiliation><nlm:aff id="A13">Caritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Gonzalez, Marcela" sort="Gonzalez, Marcela" uniqKey="Gonzalez M" first="Marcela" last="Gonzalez">Marcela Gonzalez</name><affiliation><nlm:aff id="A7">Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Martinez Barricarte, Ruben" sort="Martinez Barricarte, Ruben" uniqKey="Martinez Barricarte R" first="Rubén" last="Martinez-Barricarte">Rubén Martinez-Barricarte</name><affiliation><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation></author><author><name sortKey="Okada, Chizuru" sort="Okada, Chizuru" uniqKey="Okada C" first="Chizuru" last="Okada">Chizuru Okada</name><affiliation><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</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="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Latorre, Daniela" sort="Latorre, Daniela" uniqKey="Latorre D" first="Daniela" last="Latorre">Daniela Latorre</name><affiliation><nlm:aff id="A5">Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</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="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Jabot Hanin, Fabienne" sort="Jabot Hanin, Fabienne" uniqKey="Jabot Hanin F" first="Fabienne" last="Jabot-Hanin">Fabienne Jabot-Hanin</name><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Torrado, Egidio" sort="Torrado, Egidio" uniqKey="Torrado E" first="Egidio" last="Torrado">Egidio Torrado</name><affiliation><nlm:aff id="A16">Trudeau Institute, Saranac Lake, NY 12983, USA.</nlm:aff></affiliation></author><author><name sortKey="Fountain, Jeffrey" sort="Fountain, Jeffrey" uniqKey="Fountain J" first="Jeffrey" last="Fountain">Jeffrey Fountain</name><affiliation><nlm:aff id="A16">Trudeau Institute, Saranac Lake, NY 12983, USA.</nlm:aff></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation></author><author><name sortKey="Migaud, Melanie" sort="Migaud, Melanie" uniqKey="Migaud M" first="Mélanie" last="Migaud">Mélanie Migaud</name><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Arlehamn, Cecilia S Lindestam" sort="Arlehamn, Cecilia S Lindestam" uniqKey="Arlehamn C" first="Cecilia S. Lindestam" last="Arlehamn">Cecilia S. Lindestam Arlehamn</name><affiliation><nlm:aff id="A17">La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.</nlm:aff></affiliation></author><author><name sortKey="Sette, Alessandro" sort="Sette, Alessandro" uniqKey="Sette A" first="Alessandro" last="Sette">Alessandro Sette</name><affiliation><nlm:aff id="A17">La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.</nlm:aff></affiliation></author><author><name sortKey="Breton, Sylvain" sort="Breton, Sylvain" uniqKey="Breton S" first="Sylvain" last="Breton">Sylvain Breton</name><affiliation><nlm:aff id="A18">Department of Radiology, Assistance Publique–Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Mccluskey, James" sort="Mccluskey, James" uniqKey="Mccluskey J" first="James" last="Mccluskey">James Mccluskey</name><affiliation><nlm:aff id="A19">Department of Microbiology and Immunology, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.</nlm:aff></affiliation></author><author><name sortKey="Rossjohn, Jamie" sort="Rossjohn, Jamie" uniqKey="Rossjohn J" first="Jamie" last="Rossjohn">Jamie Rossjohn</name><affiliation><nlm:aff id="A20">Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Australian Research Council Centre of Excellence for Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Institute of Infection and Immunity, Cardiff University, School of Medicine, Heath Park, Cardiff CF14 4XN, UK.</nlm:aff></affiliation></author><author><name sortKey="De Villartay, Jean Pierre" sort="De Villartay, Jean Pierre" uniqKey="De Villartay J" first="Jean-Pierre" last="De Villartay">Jean-Pierre De Villartay</name><affiliation><nlm:aff id="A23">Laboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Moshous, Despina" sort="Moshous, Despina" uniqKey="Moshous D" first="Despina" last="Moshous">Despina Moshous</name><affiliation><nlm:aff id="A23">Laboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name><affiliation><nlm:aff id="A25">Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne NE4 6BE, UK.</nlm:aff></affiliation></author><author><name sortKey="Latour, Sylvain" sort="Latour, Sylvain" uniqKey="Latour S" first="Sylvain" last="Latour">Sylvain Latour</name><affiliation><nlm:aff id="A26">Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D." last="Arkwright">Peter D. Arkwright</name><affiliation><nlm:aff id="A27">Department of Paediatric Allergy Immunology, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A28">Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Lantz, Olivier" sort="Lantz, Olivier" uniqKey="Lantz O" first="Olivier" last="Lantz">Olivier Lantz</name><affiliation><nlm:aff id="A11">Institut Curie, INSERM U932, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Engelhard, Dan" sort="Engelhard, Dan" uniqKey="Engelhard D" first="Dan" last="Engelhard">Dan Engelhard</name><affiliation><nlm:aff id="A6">Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Kobayashi, Masao" sort="Kobayashi, Masao" uniqKey="Kobayashi M" first="Masao" last="Kobayashi">Masao Kobayashi</name><affiliation><nlm:aff id="A2">Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Cooper, Andrea M" sort="Cooper, Andrea M" uniqKey="Cooper A" first="Andrea M." last="Cooper">Andrea M. Cooper</name><affiliation><nlm:aff id="A16">Trudeau Institute, Saranac Lake, NY 12983, USA.</nlm:aff></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name><affiliation><nlm:aff id="A12">Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA 02115, USA.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Sallusto, Federica" sort="Sallusto, Federica" uniqKey="Sallusto F" first="Federica" last="Sallusto">Federica Sallusto</name><affiliation><nlm:aff id="A5">Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</nlm:aff></affiliation><affiliation><nlm:aff id="A30">Center of Medical Immunology, Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A28">Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.</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="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A31">Howard Hughes Medical Institute, New York, NY 10065, USA.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26160376</idno><idno type="pmc">4668938</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668938</idno><idno type="RBID">PMC:4668938</idno><idno type="doi">10.1126/science.aaa4282</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001D24</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001D24</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Impairment of immunity to <italic>Candida</italic> and <italic>Mycobacterium</italic> in humans with bi-allelic <italic>RORC</italic> mutations<sup><xref ref-type="fn" rid="FN3">*</xref></sup></title><author><name sortKey="Okada, Satoshi" sort="Okada, Satoshi" uniqKey="Okada S" first="Satoshi" last="Okada">Satoshi Okada</name><affiliation><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.</nlm:aff></affiliation></author><author><name sortKey="Markle, Janet G" sort="Markle, Janet G" uniqKey="Markle J" first="Janet G." last="Markle">Janet G. Markle</name><affiliation><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation></author><author><name sortKey="Deenick, Elissa K" sort="Deenick, Elissa K" uniqKey="Deenick E" first="Elissa K." last="Deenick">Elissa K. Deenick</name><affiliation><nlm:aff id="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Mele, Federico" sort="Mele, Federico" uniqKey="Mele F" first="Federico" last="Mele">Federico Mele</name><affiliation><nlm:aff id="A5">Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</nlm:aff></affiliation></author><author><name sortKey="Averbuch, Dina" sort="Averbuch, Dina" uniqKey="Averbuch D" first="Dina" last="Averbuch">Dina Averbuch</name><affiliation><nlm:aff id="A6">Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Lagos, Macarena" sort="Lagos, Macarena" uniqKey="Lagos M" first="Macarena" last="Lagos">Macarena Lagos</name><affiliation><nlm:aff id="A7">Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.</nlm:aff></affiliation><affiliation><nlm:aff id="A8">Department of Pediatrics, Padre Hurtado Hospital and Clinica Alemana, Santiago, Chile.</nlm:aff></affiliation></author><author><name sortKey="Alzahrani, Mohammed" sort="Alzahrani, Mohammed" uniqKey="Alzahrani M" first="Mohammed" last="Alzahrani">Mohammed Alzahrani</name><affiliation><nlm:aff id="A9">Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.</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="A9">Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.</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="A10">Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.</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="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Wong, Natalie" sort="Wong, Natalie" uniqKey="Wong N" first="Natalie" last="Wong">Natalie Wong</name><affiliation><nlm:aff id="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Soudais, Claire" sort="Soudais, Claire" uniqKey="Soudais C" first="Claire" last="Soudais">Claire Soudais</name><affiliation><nlm:aff id="A11">Institut Curie, INSERM U932, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Henderson, Lauren A" sort="Henderson, Lauren A" uniqKey="Henderson L" first="Lauren A." last="Henderson">Lauren A. Henderson</name><affiliation><nlm:aff id="A12">Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.</nlm:aff></affiliation></author><author><name sortKey="Marzouqa, Hiyam" sort="Marzouqa, Hiyam" uniqKey="Marzouqa H" first="Hiyam" last="Marzouqa">Hiyam Marzouqa</name><affiliation><nlm:aff id="A13">Caritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Shamma, Jamal" sort="Shamma, Jamal" uniqKey="Shamma J" first="Jamal" last="Shamma">Jamal Shamma</name><affiliation><nlm:aff id="A13">Caritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Gonzalez, Marcela" sort="Gonzalez, Marcela" uniqKey="Gonzalez M" first="Marcela" last="Gonzalez">Marcela Gonzalez</name><affiliation><nlm:aff id="A7">Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Martinez Barricarte, Ruben" sort="Martinez Barricarte, Ruben" uniqKey="Martinez Barricarte R" first="Rubén" last="Martinez-Barricarte">Rubén Martinez-Barricarte</name><affiliation><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation></author><author><name sortKey="Okada, Chizuru" sort="Okada, Chizuru" uniqKey="Okada C" first="Chizuru" last="Okada">Chizuru Okada</name><affiliation><nlm:aff id="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</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="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Latorre, Daniela" sort="Latorre, Daniela" uniqKey="Latorre D" first="Daniela" last="Latorre">Daniela Latorre</name><affiliation><nlm:aff id="A5">Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</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="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Jabot Hanin, Fabienne" sort="Jabot Hanin, Fabienne" uniqKey="Jabot Hanin F" first="Fabienne" last="Jabot-Hanin">Fabienne Jabot-Hanin</name><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Torrado, Egidio" sort="Torrado, Egidio" uniqKey="Torrado E" first="Egidio" last="Torrado">Egidio Torrado</name><affiliation><nlm:aff id="A16">Trudeau Institute, Saranac Lake, NY 12983, USA.</nlm:aff></affiliation></author><author><name sortKey="Fountain, Jeffrey" sort="Fountain, Jeffrey" uniqKey="Fountain J" first="Jeffrey" last="Fountain">Jeffrey Fountain</name><affiliation><nlm:aff id="A16">Trudeau Institute, Saranac Lake, NY 12983, USA.</nlm:aff></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation></author><author><name sortKey="Migaud, Melanie" sort="Migaud, Melanie" uniqKey="Migaud M" first="Mélanie" last="Migaud">Mélanie Migaud</name><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Arlehamn, Cecilia S Lindestam" sort="Arlehamn, Cecilia S Lindestam" uniqKey="Arlehamn C" first="Cecilia S. Lindestam" last="Arlehamn">Cecilia S. Lindestam Arlehamn</name><affiliation><nlm:aff id="A17">La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.</nlm:aff></affiliation></author><author><name sortKey="Sette, Alessandro" sort="Sette, Alessandro" uniqKey="Sette A" first="Alessandro" last="Sette">Alessandro Sette</name><affiliation><nlm:aff id="A17">La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.</nlm:aff></affiliation></author><author><name sortKey="Breton, Sylvain" sort="Breton, Sylvain" uniqKey="Breton S" first="Sylvain" last="Breton">Sylvain Breton</name><affiliation><nlm:aff id="A18">Department of Radiology, Assistance Publique–Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Mccluskey, James" sort="Mccluskey, James" uniqKey="Mccluskey J" first="James" last="Mccluskey">James Mccluskey</name><affiliation><nlm:aff id="A19">Department of Microbiology and Immunology, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.</nlm:aff></affiliation></author><author><name sortKey="Rossjohn, Jamie" sort="Rossjohn, Jamie" uniqKey="Rossjohn J" first="Jamie" last="Rossjohn">Jamie Rossjohn</name><affiliation><nlm:aff id="A20">Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Australian Research Council Centre of Excellence for Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Institute of Infection and Immunity, Cardiff University, School of Medicine, Heath Park, Cardiff CF14 4XN, UK.</nlm:aff></affiliation></author><author><name sortKey="De Villartay, Jean Pierre" sort="De Villartay, Jean Pierre" uniqKey="De Villartay J" first="Jean-Pierre" last="De Villartay">Jean-Pierre De Villartay</name><affiliation><nlm:aff id="A23">Laboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Moshous, Despina" sort="Moshous, Despina" uniqKey="Moshous D" first="Despina" last="Moshous">Despina Moshous</name><affiliation><nlm:aff id="A23">Laboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name><affiliation><nlm:aff id="A25">Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne NE4 6BE, UK.</nlm:aff></affiliation></author><author><name sortKey="Latour, Sylvain" sort="Latour, Sylvain" uniqKey="Latour S" first="Sylvain" last="Latour">Sylvain Latour</name><affiliation><nlm:aff id="A26">Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D." last="Arkwright">Peter D. Arkwright</name><affiliation><nlm:aff id="A27">Department of Paediatric Allergy Immunology, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A28">Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Lantz, Olivier" sort="Lantz, Olivier" uniqKey="Lantz O" first="Olivier" last="Lantz">Olivier Lantz</name><affiliation><nlm:aff id="A11">Institut Curie, INSERM U932, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Engelhard, Dan" sort="Engelhard, Dan" uniqKey="Engelhard D" first="Dan" last="Engelhard">Dan Engelhard</name><affiliation><nlm:aff id="A6">Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Kobayashi, Masao" sort="Kobayashi, Masao" uniqKey="Kobayashi M" first="Masao" last="Kobayashi">Masao Kobayashi</name><affiliation><nlm:aff id="A2">Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Cooper, Andrea M" sort="Cooper, Andrea M" uniqKey="Cooper A" first="Andrea M." last="Cooper">Andrea M. Cooper</name><affiliation><nlm:aff id="A16">Trudeau Institute, Saranac Lake, NY 12983, USA.</nlm:aff></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name><affiliation><nlm:aff id="A12">Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA 02115, USA.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Sallusto, Federica" sort="Sallusto, Federica" uniqKey="Sallusto F" first="Federica" last="Sallusto">Federica Sallusto</name><affiliation><nlm:aff id="A5">Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</nlm:aff></affiliation><affiliation><nlm:aff id="A30">Center of Medical Immunology, Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A28">Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.</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="A3">Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="A4">St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</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="A1">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A31">Howard Hughes Medical Institute, New York, NY 10065, USA.</nlm:aff></affiliation></author></analytic><series><title level="j">Science (New York, N.Y.)</title><idno type="ISSN">0036-8075</idno><idno type="eISSN">1095-9203</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 id="P3">Human inborn errors of immunity mediated by the cytokines interleukin (IL)-17A/F underlie mucocutaneous candidiasis, whereas inborn errors of interferon (IFN)-γ immunity underlie mycobacterial disease. We report the discovery of bi-allelic <italic>RORC</italic> loss-of-function mutations in seven individuals from three kindreds of different ethnic origins with both candidiasis and mycobacteriosis. The lack of functional RORγ and RORγT isoforms resulted in the absence of IL-17A/F-producing T cells in these individuals, probably accounting for their chronic candidiasis. Unexpectedly, leukocytes from RORγ- and RORγT-deficient individuals also displayed an impaired IFN-γ response to <italic>Mycobacterium</italic>. This principally reflected profoundly defective IFN-γ production by circulating γδ T cells and CD4<sup>+</sup>CCR6<sup>+</sup> CXCR3<sup>+</sup> αβ T cells. In humans, both mucocutaneous immunity to <italic>Candida</italic> and systemic immunity to <italic>Mycobacterium</italic> require RORγ, or RORγT, or both.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0404511</journal-id><journal-id journal-id-type="pubmed-jr-id">7473</journal-id><journal-id journal-id-type="nlm-ta">Science</journal-id><journal-id journal-id-type="iso-abbrev">Science</journal-id><journal-title-group><journal-title>Science (New York, N.Y.)</journal-title></journal-title-group><issn pub-type="ppub">0036-8075</issn><issn pub-type="epub">1095-9203</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26160376</article-id><article-id pub-id-type="pmc">4668938</article-id><article-id pub-id-type="doi">10.1126/science.aaa4282</article-id><article-id pub-id-type="manuscript">NIHMS740880</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Impairment of immunity to <italic>Candida</italic> and <italic>Mycobacterium</italic> in humans with bi-allelic <italic>RORC</italic> mutations<sup><xref ref-type="fn" rid="FN3">*</xref></sup></article-title></title-group><contrib-group><contrib contrib-type="author" equal-contrib="yes"><name><surname>Okada</surname><given-names>Satoshi</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Markle</surname><given-names>Janet G.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="CR1">†</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Deenick</surname><given-names>Elissa K.</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Mele</surname><given-names>Federico</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Averbuch</surname><given-names>Dina</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Lagos</surname><given-names>Macarena</given-names></name><xref ref-type="aff" rid="A7">7</xref><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Alzahrani</surname><given-names>Mohammed</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Al-Muhsen</surname><given-names>Saleh</given-names></name><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Halwani</surname><given-names>Rabih</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Ma</surname><given-names>Cindy S.</given-names></name><xref 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contrib-type="author"><name><surname>Lantz</surname><given-names>Olivier</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Engelhard</surname><given-names>Dan</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Kobayashi</surname><given-names>Masao</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Abel</surname><given-names>Laurent</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Cooper</surname><given-names>Andrea M.</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Notarangelo</surname><given-names>Luigi D.</given-names></name><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Boisson-Dupuis</surname><given-names>Stéphanie</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Puel</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Sallusto</surname><given-names>Federica</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Bustamante</surname><given-names>Jacinta</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author" equal-contrib="yes"><name><surname>Tangye</surname><given-names>Stuart G.</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref><xref ref-type="aff" rid="A24">24</xref><xref ref-type="aff" rid="A31">31</xref><xref ref-type="corresp" rid="CR1">†</xref></contrib></contrib-group><aff id="A1"><label>1</label>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.</aff><aff id="A2"><label>2</label>Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.</aff><aff id="A3"><label>3</label>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.</aff><aff id="A4"><label>4</label>St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</aff><aff id="A5"><label>5</label>Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</aff><aff id="A6"><label>6</label>Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.</aff><aff id="A7"><label>7</label>Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.</aff><aff id="A8"><label>8</label>Department of Pediatrics, Padre Hurtado Hospital and Clinica Alemana, Santiago, Chile.</aff><aff id="A9"><label>9</label>Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.</aff><aff id="A10"><label>10</label>Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.</aff><aff id="A11"><label>11</label>Institut Curie, INSERM U932, Paris, France.</aff><aff id="A12"><label>12</label>Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.</aff><aff id="A13"><label>13</label>Caritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel.</aff><aff id="A14"><label>14</label>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.</aff><aff id="A15"><label>15</label>Paris Descartes University, Imagine Institute, Paris, France.</aff><aff id="A16"><label>16</label>Trudeau Institute, Saranac Lake, NY 12983, USA.</aff><aff id="A17"><label>17</label>La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.</aff><aff id="A18"><label>18</label>Department of Radiology, Assistance Publique–Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.</aff><aff id="A19"><label>19</label>Department of Microbiology and Immunology, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.</aff><aff id="A20"><label>20</label>Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia.</aff><aff id="A21"><label>21</label>Australian Research Council Centre of Excellence for Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.</aff><aff id="A22"><label>22</label>Institute of Infection and Immunity, Cardiff University, School of Medicine, Heath Park, Cardiff CF14 4XN, UK.</aff><aff id="A23"><label>23</label>Laboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.</aff><aff id="A24"><label>24</label>Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</aff><aff id="A25"><label>25</label>Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne NE4 6BE, UK.</aff><aff id="A26"><label>26</label>Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Université Paris Descartes–Sorbonne Paris Cité, Imagine Institute, Paris, France.</aff><aff id="A27"><label>27</label>Department of Paediatric Allergy Immunology, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.</aff><aff id="A28"><label>28</label>Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.</aff><aff id="A29"><label>29</label>Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA 02115, USA.</aff><aff id="A30"><label>30</label>Center of Medical Immunology, Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.</aff><aff id="A31"><label>31</label>Howard Hughes Medical Institute, New York, NY 10065, USA.</aff><author-notes><fn fn-type="present-address" id="FN1"><label>§</label><p id="P1">Present address: Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.</p></fn><fn fn-type="present-address" id="FN2"><label>∥</label><p id="P2">Present address: National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, Office of Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, GA 30329, USA.</p></fn><corresp id="CR1"><label>†</label>Corresponding author. <email>jmarkle@rockefeller.edu</email> (J.G.M.); <email>jean-laurent.casanova@rockefeller.edu</email> (J.-L.C.)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>28</day><month>11</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>09</day><month>7</month><year>2015</year></pub-date><pub-date pub-type="ppub"><day>7</day><month>8</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>07</day><month>2</month><year>2016</year></pub-date><volume>349</volume><issue>6248</issue><fpage>606</fpage><lpage>613</lpage><pmc-comment>elocation-id from pubmed: 10.1126/science.aaa4282</pmc-comment>
<abstract><p id="P3">Human inborn errors of immunity mediated by the cytokines interleukin (IL)-17A/F underlie mucocutaneous candidiasis, whereas inborn errors of interferon (IFN)-γ immunity underlie mycobacterial disease. We report the discovery of bi-allelic <italic>RORC</italic> loss-of-function mutations in seven individuals from three kindreds of different ethnic origins with both candidiasis and mycobacteriosis. The lack of functional RORγ and RORγT isoforms resulted in the absence of IL-17A/F-producing T cells in these individuals, probably accounting for their chronic candidiasis. Unexpectedly, leukocytes from RORγ- and RORγT-deficient individuals also displayed an impaired IFN-γ response to <italic>Mycobacterium</italic>. This principally reflected profoundly defective IFN-γ production by circulating γδ T cells and CD4<sup>+</sup>CCR6<sup>+</sup> CXCR3<sup>+</sup> αβ T cells. In humans, both mucocutaneous immunity to <italic>Candida</italic> and systemic immunity to <italic>Mycobacterium</italic> require RORγ, or RORγT, or both.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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