{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T14:45:00Z","timestamp":1772808300486,"version":"3.50.1"},"reference-count":40,"publisher":"Rockefeller University Press","issue":"7","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2008,7,7]]},"abstract":"<jats:p>The cytokines controlling the development of human interleukin (IL) 17\u2013producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17\u2013producing T helper cells in vivo by quantifying the production and secretion of IL-17 by fresh T cells ex vivo, and by T cell blasts expanded in vitro from patients with particular genetic traits affecting transforming growth factor (TGF) \u03b2, IL-1, IL-6, or IL-23 responses. Activating mutations in TGFB1, TGFBR1, and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function mutations in IRAK4 and MYD88 (Mendelian predisposition to pyogenic bacterial infections) had no detectable impact. In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, null mutations in IL12B and IL12RB1 (Mendelian susceptibility to mycobacterial diseases) impaired the development of IL-17\u2013producing T cells. These data suggest that IL-12R\u03b21\u2013 and STAT-3\u2013dependent signals play a key role in the differentiation and\/or expansion of human IL-17\u2013producing T cell populations in vivo.<\/jats:p>","DOI":"10.1084\/jem.20080321","type":"journal-article","created":{"date-parts":[[2008,7,1]],"date-time":"2008-07-01T19:56:29Z","timestamp":1214942189000},"page":"1543-1550","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":395,"title":["Mutations in\n                    <i>STAT3<\/i>\n                    and\n                    <i>IL12RB1<\/i>\n                    impair the development of human IL-17\u2013producing T cells"],"prefix":"10.1084","volume":"205","author":[{"given":"Ludovic","family":"de Beaucoudrey","sequence":"first","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Anne","family":"Puel","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Orchide\u0301e","family":"Filipe-Santos","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Aure\u0301lie","family":"Cobat","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Pegah","family":"Ghandil","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Maya","family":"Chrabieh","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Jacqueline","family":"Feinberg","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Horst","family":"von Bernuth","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Arina","family":"Samarina","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Lucile","family":"Jannie\u0300re","sequence":"additional","affiliation":[{"name":"1Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM), 75015 Paris, France"},{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"}]},{"given":"Claire","family":"Fieschi","sequence":"additional","affiliation":[{"name":"3Immunopathology Unit, Saint-Louis Hospital, Assistance Publique\u2013Ho\u0302pitaux de Paris (AP-HP), 75010 Paris, France"}]},{"given":"Jean-Louis","family":"Ste\u0301phan","sequence":"additional","affiliation":[{"name":"4Department of Pediatrics, Saint-Etienne University Hospital, 42100 Saint-Etienne, France"}]},{"given":"Catherine","family":"Boileau","sequence":"additional","affiliation":[{"name":"5Laboratory of Molecular Genetics, Ambroise Pare\u0301 Hospital, AP-HP, University Versailles SQY, 92100 Boulogne-Billancourt, France"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[{"name":"2University Paris Descartes, Necker Medical School, 75015 Paris, France"},{"name":"6Department of Genetics and U781, 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Immunology Unit, Tours University Hospital, 37000 Tours, France"}]},{"given":"Yvon","family":"Lebranchu","sequence":"additional","affiliation":[{"name":"12Dendritic Cells and Grafts, Unite\u0301 de Formation et de Recherche de Me\u0301decine, Franc\u0327ois Rabelais University, Tours Medical School, 37000 Tours, France"},{"name":"13Allergy and Immunology Unit, Tours University Hospital, 37000 Tours, France"}]},{"given":"Olivier","family":"Lortholary","sequence":"additional","affiliation":[{"name":"7Department of Infectious Diseases and Tropical Medicine, Necker-Pasteur Infectiology Center,"}]},{"given":"Marie-Olivia","family":"Chandesris","sequence":"additional","affiliation":[{"name":"7Department of Infectious Diseases and Tropical Medicine, Necker-Pasteur Infectiology Center,"}]},{"given":"Franc\u0327ois","family":"Tron","sequence":"additional","affiliation":[{"name":"14U905, INSERM, Institut Fe\u0301de\u0301ratif de Recherche 23, 76100 Rouen, France"},{"name":"15Medical and 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