{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T08:08:17Z","timestamp":1792138097442,"version":"4.4.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2015,10,15]],"date-time":"2015-10-15T00:00:00Z","timestamp":1444867200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2015,11]]},"DOI":"10.1007\/s10875-015-0205-x","type":"journal-article","created":{"date-parts":[[2015,10,15]],"date-time":"2015-10-15T06:40:35Z","timestamp":1444891235000},"page":"739-744","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome"],"prefix":"10.1007","volume":"35","author":[{"given":"Glynis","family":"Frans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leen","family":"Moens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rik","family":"Schrijvers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greet","family":"Wuyts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Bouckaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Schaballie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lieven","family":"Dupont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Bossuyt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anniek","family":"Corveleyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Meyts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,10,15]]},"reference":[{"issue":"5615","key":"205_CR1","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1126\/science.1081902","volume":"299","author":"C Picard","year":"2003","unstructured":"Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science. 2003;299(5615):2076\u20139.","journal-title":"Science"},{"key":"205_CR2","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1126\/science.1158298","volume":"321","author":"H Bernuth Von","year":"2008","unstructured":"Von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, et al. Pyogenic bacterial infections in humans with MyD88 deficiency. Science. 2008;321:691\u20136. doi: 10.1126\/science.1158298 .","journal-title":"Science"},{"issue":"6","key":"205_CR3","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1097\/MD.0b013e3181fd8ec3","volume":"89","author":"C Picard","year":"2010","unstructured":"Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, et al. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore). 2010;89(6):403\u201325. doi: 10.1097\/MD.0b013e3181fd8ec3 .","journal-title":"Medicine (Baltimore)"},{"issue":"10","key":"205_CR4","doi-asserted-by":"crossref","first-page":"2407","DOI":"10.1084\/jem.20070628","volume":"204","author":"CL Ku","year":"2007","unstructured":"Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HH, Yang K, et al. Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med. 2007;204(10):2407\u201322.","journal-title":"J Exp Med"},{"issue":"24","key":"205_CR5","doi-asserted-by":"crossref","first-page":"3561","DOI":"10.1182\/blood-2014-07-587824","volume":"124","author":"PJ Maglione","year":"2014","unstructured":"Maglione PJ, Simchoni N, Black S, Radigan L, Overbey JR, Bagiella E, et al. IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens. Blood. 2014;124(24):3561\u201371. doi: 10.1182\/blood-2014-07-587824 .","journal-title":"Blood"},{"issue":"25","key":"205_CR6","doi-asserted-by":"crossref","first-page":"4992","DOI":"10.1182\/blood-2012-07-440776","volume":"120","author":"S Weller","year":"2012","unstructured":"Weller S, Bonnet M, Delagreverie H, Israel L, Chrabieh M, Mar\u00f3di L, et al. IgM\u2009+\u2009IgD\u2009+\u2009CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients. Blood. 2012;120(25):4992\u20135001. doi: 10.1182\/blood-2012-07-440776 .","journal-title":"Blood"},{"issue":"3","key":"205_CR7","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1086\/302547","volume":"65","author":"B Grimbacher","year":"1999","unstructured":"Grimbacher B, Sch\u00e4ffer AA, Holland SM, Davis J, Gallin JI, Malech HL, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999;65(3):735\u201344.","journal-title":"Am J Hum Genet"},{"issue":"9","key":"205_CR8","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1056\/NEJM199903043400904","volume":"340","author":"B Grimbacher","year":"1999","unstructured":"Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692\u2013702.","journal-title":"N Engl J Med"},{"issue":"7157","key":"205_CR9","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1038\/nature06096","volume":"448","author":"Y Minegishi","year":"2007","unstructured":"Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058\u201362.","journal-title":"Nature"},{"issue":"16","key":"205_CR10","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1056\/NEJMoa073687","volume":"357","author":"SM Holland","year":"2007","unstructured":"Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357(16):1608\u201319.","journal-title":"N Engl J Med"},{"issue":"4","key":"205_CR11","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1097\/MD.0b013e31825f95b9","volume":"91","author":"MO Chandesris","year":"2012","unstructured":"Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore). 2012;91(4):e1\u201319. doi: 10.1097\/MD.0b013e31825f95b9 .","journal-title":"Medicine (Baltimore)"},{"issue":"2","key":"205_CR12","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.jaci.2009.10.059","volume":"125","author":"C Woellner","year":"2010","unstructured":"Woellner C, Gertz EM, Sch\u00e4ffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(2):424\u201332. doi: 10.1016\/j.jaci.2009.10.059 .","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"205_CR13","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/icb.2013.55","volume":"92","author":"CS Ma","year":"2014","unstructured":"Ma CS, Deenick EK. Human T follicular helper (TFH) cells and disease. Immunol Cell Biol. 2014;92(1):64\u201371. doi: 10.1038\/icb.2013.55 .","journal-title":"Immunol Cell Biol"},{"issue":"2","key":"205_CR14","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1365-2249.2010.04206.x","volume":"162","author":"H Morbach","year":"2010","unstructured":"Morbach H, Eichhorn EM, Liese JG, Girschick HJ. Reference values for B cell subpopulations from infancy to adulthood. Clin Exp Immunol. 2010;162(2):271\u20139. doi: 10.1111\/j.1365-2249.2010.04206.x .","journal-title":"Clin Exp Immunol"},{"issue":"4","key":"205_CR15","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1084\/jem.20030701","volume":"198","author":"AE Medvedev","year":"2003","unstructured":"Medvedev AE, Lentschat A, Kuhns DB, Blanco JC, Salkowski C, Zhang S, et al. Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J Exp Med. 2003;198(4):521\u201331.","journal-title":"J Exp Med"},{"key":"205_CR16","author":"T Kurosaki","year":"2015","unstructured":"Kurosaki T, Kometani K, Ise W. Memory B cells. Nat Rev Immunol. 2015. doi: 10.1038\/nri3802 .","journal-title":"Nat Rev Immunol"},{"issue":"7","key":"205_CR17","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1084\/jem.20080321","volume":"205","author":"L Beaucoudrey de","year":"2008","unstructured":"de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med. 2008;205(7):1543\u201350. doi: 10.1084\/jem.20080321 .","journal-title":"J Exp Med"},{"issue":"12","key":"205_CR18","volume":"9","author":"LN Moens","year":"2014","unstructured":"Moens LN, Falk-S\u00f6rqvist E, Asplund AC, Bernatowska E, Smith CI, Nilsson M. Diagnostics of primary immunodeficiency diseases: a sequencing capture approach. PLoS One. 2014;9(12), e114901. doi: 10.1371\/journal.pone.0114901 .","journal-title":"PLoS One"},{"issue":"2","key":"205_CR19","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.jaci.2013.08.032","volume":"133","author":"IJ Nijman","year":"2014","unstructured":"Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, et al. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol. 2014;133(2):529\u201334. doi: 10.1016\/j.jaci.2013.08.032 .","journal-title":"J Allergy Clin Immunol"},{"key":"205_CR20","doi-asserted-by":"crossref","first-page":"531","DOI":"10.3389\/fimmu.2014.00531","volume":"5","author":"JL Stoddard","year":"2014","unstructured":"Stoddard JL, Niemela JE, Fleisher TA, Targeted RSD, NGS. A cost-effective approach to molecular diagnosis of PIDs. Front Immunol. 2014;5:531. doi: 10.3389\/fimmu.2014.00531 .","journal-title":"Front Immunol"},{"issue":"5","key":"205_CR21","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1111\/j.1398-9995.2008.01889.x","volume":"64","author":"MA Tewfik","year":"2009","unstructured":"Tewfik MA, Boss\u00e9 Y, Lemire M, Hudson TJ, Vall\u00e9e-Smejda S, Al-Shemari H, et al. Polymorphisms in interleukin-1 receptor-associated kinase 4 are associated with total serum IgE. Allergy. 2009;64(5):746\u201353. doi: 10.1111\/j.1398-9995.2008.01889.x .","journal-title":"Allergy"},{"issue":"6","key":"205_CR22","volume":"6","author":"Y Zhang","year":"2011","unstructured":"Zhang Y, Lin X, Desrosiers M, Zhang W, Meng N, Zhao L, et al. Association pattern of interleukin-1 receptor-associated kinase-4 gene polymorphisms with allergic rhinitis in a Han Chinese population. PLoS One. 2011;6(6), e21769. doi: 10.1371\/journal.pone.0021769 .","journal-title":"PLoS One"},{"issue":"5","key":"205_CR23","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1182\/blood-2008-02-142745","volume":"112","author":"DT Avery","year":"2008","unstructured":"Avery DT, Ma CS, Bryant VL, Santner-Nanan B, Nanan R, Wong M, et al. STAT3 is required for IL-21-induced secretion of IgE from human naive B cells. Blood. 2008;112(5):1784\u201393. doi: 10.1182\/blood-2008-02-142745 .","journal-title":"Blood"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-015-0205-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-015-0205-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-015-0205-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,31]],"date-time":"2019-05-31T04:15:00Z","timestamp":1559276100000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-015-0205-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,15]]},"references-count":23,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["205"],"URL":"https:\/\/doi.org\/10.1007\/s10875-015-0205-x","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,15]]}}}