{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T12:47:22Z","timestamp":1789390042297,"version":"build-2803163510"},"reference-count":32,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2009,8]]},"DOI":"10.1016\/j.jaci.2009.05.004","type":"journal-article","created":{"date-parts":[[2009,7,4]],"date-time":"2009-07-04T04:21:29Z","timestamp":1246681289000},"page":"342-348.e5","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":85,"title":["Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome"],"prefix":"10.1016","volume":"124","author":[{"given":"Shadi","family":"Al Khatib","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevgi","family":"Keles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Garcia-Lloret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif","family":"Karakoc-Aydiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Reisli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasibe","family":"Artac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yildiz","family":"Camcioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haluk","family":"Cokugras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayper","family":"Somer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Necil","family":"Kutukculer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aydan","family":"Ikinciogullari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olcay","family":"Yegin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mutlu","family":"Y\u00fcksek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferah","family":"Genel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ercan","family":"Kucukosmanoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Baki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nerin N.","family":"Bahceciler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupama","family":"Rambhatla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek W.","family":"Nickerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"McGhee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isil B.","family":"Barlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talal","family":"Chatila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2009.05.004_bib1","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/S0140-6736(66)90119-X","article-title":"Job's syndrome: recurrent, \u201ccold,\u201d staphylococcal abscesses","volume":"1","author":"Davis","year":"1966","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2009.05.004_bib2","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1542\/peds.49.1.59","article-title":"Extreme hyperimmunoglobulinemia E and undue susceptibility to infection","volume":"49","author":"Buckley","year":"1972","journal-title":"Pediatrics"},{"key":"10.1016\/j.jaci.2009.05.004_bib3","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1056\/NEJM199903043400904","article-title":"Hyper-IgE syndrome with recurrent infections\u2014an autosomal dominant multisystem disorder","volume":"340","author":"Grimbacher","year":"1999","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2009.05.004_bib4","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.immuni.2006.09.009","article-title":"Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity","volume":"25","author":"Minegishi","year":"2006","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2009.05.004_bib5","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1038\/nature06096","article-title":"Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome","volume":"448","author":"Minegishi","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2009.05.004_bib6","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1056\/NEJMoa073687","article-title":"STAT3 mutations in the hyper-IgE syndrome","volume":"357","author":"Holland","year":"2007","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2009.05.004_bib7","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1172\/JCI0215650","article-title":"What does Stat3 do?","volume":"109","author":"Levy","year":"2002","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2009.05.004_bib8","doi-asserted-by":"crossref","first-page":"20059","DOI":"10.1074\/jbc.R700016200","article-title":"JAK-STAT signaling: from interferons to cytokines","volume":"282","author":"Schindler","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2009.05.004_bib9","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1038\/nature06764","article-title":"Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome","volume":"452","author":"Milner","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2009.05.004_bib10","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1084\/jem.20080321","article-title":"Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells","volume":"205","author":"de Beaucoudrey","year":"2008","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2009.05.004_bib11","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1084\/jem.20080218","article-title":"Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3","volume":"205","author":"Ma","year":"2008","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2009.05.004_bib12","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.jaci.2008.04.037","article-title":"Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome","volume":"122","author":"Renner","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib13","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1146\/annurev.immunol.25.022106.141557","article-title":"IL-17 family cytokines and the expanding diversity of effector T cell lineages","volume":"25","author":"Weaver","year":"2007","journal-title":"Annu Rev Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib14","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1084\/jem.20050193","article-title":"Divergent roles of IL-23 and IL-12 in host defense against Klebsiella pneumoniae","volume":"202","author":"Happel","year":"2005","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2009.05.004_bib15","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/ni1496","article-title":"Interleukins 1beta and 6 but not transforming growth factor-beta are essential for the differentiation of interleukin 17-producing human T helper cells","volume":"8","author":"Acosta-Rodriguez","year":"2007","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib16","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1038\/ni1460","article-title":"Syk- and CARD9-dependent coupling of innate immunity to the induction of T helper cells that produce interleukin 17","volume":"8","author":"LeibundGut-Landmann","year":"2007","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib17","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/ni0607-549","article-title":"Antifungal defense turns 17","volume":"8","author":"Palm","year":"2007","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib18","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0022-3476(03)00449-9","article-title":"Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity","volume":"144","author":"Renner","year":"2004","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaci.2009.05.004_bib19","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.clim.2003.11.009","article-title":"Analysis of protein phosphorylation and cellular signaling events by flow cytometry: techniques and clinical applications","volume":"110","author":"Krutzik","year":"2004","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib20","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1039\/b606246f","article-title":"Structure, function, and regulation of STAT proteins","volume":"2","author":"Lim","year":"2006","journal-title":"Mol Biosyst"},{"key":"10.1016\/j.jaci.2009.05.004_bib21","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/nature04753","article-title":"Reciprocal developmental pathways for the generation of pathogenic effector TH17 and regulatory T cells","volume":"441","author":"Bettelli","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2009.05.004_bib22","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/nature05970","article-title":"IL-21 initiates an alternative pathway to induce proinflammatory T(H)17 cells","volume":"448","author":"Korn","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2009.05.004_bib23","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1038\/ni1488","article-title":"IL-6 programs T(H)-17 cell differentiation by promoting sequential engagement of the IL-21 and IL-23 pathways","volume":"8","author":"Zhou","year":"2007","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib24","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/nature05969","article-title":"Essential autocrine regulation by IL-21 in the generation of inflammatory T cells","volume":"448","author":"Nurieva","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2009.05.004_bib25","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.smim.2007.10.011","article-title":"Transcriptional regulation of Th17 cell differentiation","volume":"19","author":"Ivanov","year":"2007","journal-title":"Semin Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib26","doi-asserted-by":"crossref","first-page":"2936","DOI":"10.1002\/art.22866","article-title":"Distinct regulation of interleukin-17 in human T helper lymphocytes","volume":"56","author":"Chen","year":"2007","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jaci.2009.05.004_bib27","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/j.1399-0004.1988.tb02888.x","article-title":"Consanguineous marriages in the Turkish population","volume":"34","author":"Basaran","year":"1988","journal-title":"Clin Genet"},{"key":"10.1016\/j.jaci.2009.05.004_bib28","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1172\/JCI19491","article-title":"Stat-3 is required for pulmonary homeostasis during hyperoxia","volume":"113","author":"Hokuto","year":"2004","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2009.05.004_bib29","doi-asserted-by":"crossref","first-page":"7250","DOI":"10.4049\/jimmunol.174.11.7250","article-title":"Overexpression of Stat3C in pulmonary epithelium protects against hyperoxic lung injury","volume":"174","author":"Lian","year":"2005","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2009.05.004_bib30","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1158\/0008-5472.939.65.3","article-title":"Novel roles of unphosphorylated STAT3 in oncogenesis and transcriptional regulation","volume":"65","author":"Yang","year":"2005","journal-title":"Cancer Res"},{"key":"10.1016\/j.jaci.2009.05.004_bib31","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1101\/gad.1553707","article-title":"Unphosphorylated STAT3 accumulates in response to IL-6 and activates transcription by binding to NFkappaB","volume":"21","author":"Yang","year":"2007","journal-title":"Genes Dev"},{"key":"10.1016\/j.jaci.2009.05.004_bibe1","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1056\/NEJM199903043400904","article-title":"Hyper-IgE syndrome with recurrent infections\u2014an autosomal dominant multisystem disorder","volume":"340","author":"Grimbacher","year":"1999","journal-title":"N Engl J Med"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674909007040?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674909007040?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:17:53Z","timestamp":1758788273000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674909007040"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["S0091674909007040"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2009.05.004","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2009,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2009.05.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}