{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:17:12Z","timestamp":1790972232123,"version":"4.1.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2012,7,31]],"date-time":"2012-07-31T00:00:00Z","timestamp":1343692800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1007\/s10875-012-9744-6","type":"journal-article","created":{"date-parts":[[2012,7,30]],"date-time":"2012-07-30T06:05:29Z","timestamp":1343628329000},"page":"1213-1220","source":"Crossref","is-referenced-by-count":53,"title":["Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism"],"prefix":"10.1007","volume":"32","author":[{"given":"Tomohiro","family":"Hori","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidenori","family":"Ohnishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahide","family":"Teramoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohji","family":"Tsubouchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takafumi","family":"Naiki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinobu","family":"Hirose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Ohara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Seishima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideo","family":"Kaneko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Fukao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,7,31]]},"reference":[{"key":"9744_CR1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1126\/science.1200439","volume":"332","author":"A Puel","year":"2011","unstructured":"Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011;332:65\u20138.","journal-title":"Science"},{"key":"9744_CR2","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","volume":"17","author":"K Nagamine","year":"1997","unstructured":"Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, et al. Positional cloning of the APECED gene. Nat Genet. 1997;17:393\u20138.","journal-title":"Nat Genet"},{"key":"9744_CR3","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/ng1297-399","volume":"17","author":"AC Finnish-German","year":"1997","unstructured":"Finnish-German AC. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet. 1997;17:399\u2013403.","journal-title":"Nat Genet"},{"key":"9744_CR4","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1084\/jem.20091669","volume":"207","author":"K Kisand","year":"2010","unstructured":"Kisand K, Boe Wolff AS, Podkrajsek KT, Tserel L, Link M, Kisand KV, et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med. 2010;207:299\u2013308.","journal-title":"J Exp Med."},{"key":"9744_CR5","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;357:1608\u201319.","journal-title":"N Engl J Med"},{"key":"9744_CR6","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1056\/NEJMoa0905506","volume":"361","author":"Q Zhang","year":"2009","unstructured":"Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361:2046\u201355.","journal-title":"N Engl J Med"},{"key":"9744_CR7","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1056\/NEJMoa0810719","volume":"361","author":"EO Glocker","year":"2009","unstructured":"Glocker EO, Hennigs A, Nabavi M, Schaffer AA, Woellner C, Salzer U, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009;361:1727\u201335.","journal-title":"N Engl J Med"},{"key":"9744_CR8","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1056\/NEJMoa1100102","volume":"365","author":"FL Veerdonk van de","year":"2011","unstructured":"van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365:54\u201361.","journal-title":"N Engl J Med"},{"key":"9744_CR9","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1084\/jem.20110958","volume":"208","author":"L Liu","year":"2011","unstructured":"Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208:1635\u201348.","journal-title":"J Exp Med."},{"key":"9744_CR10","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.cytogfr.2008.08.004","volume":"19","author":"DJ Gough","year":"2008","unstructured":"Gough DJ, Levy DE, Johnstone RW, Clarke CJ. IFNgamma signaling-does it mean JAK-STAT? Cytokine Growth Factor Rev. 2008;19:383\u201394.","journal-title":"Cytokine Growth Factor Rev."},{"key":"9744_CR11","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1126\/science.1061154","volume":"293","author":"S Dupuis","year":"2001","unstructured":"Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science. 2001;293:300\u20133.","journal-title":"Science"},{"key":"9744_CR12","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/S0168-8278(99)80297-9","volume":"31","author":"F Alvarez","year":"1999","unstructured":"Alvarez F, Berg PA, Bianchi FB, Bianchi L, Burroughs AK, Cancado EL, et al. International Autoimmune Hepatitis Group Report: review of criteria for diagnosis of autoimmune hepatitis. J Hepatol. 1999;31:929\u201338.","journal-title":"J Hepatol"},{"key":"9744_CR13","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1111\/j.1365-2133.2010.09978.x","volume":"163","author":"A Yamauchi","year":"2010","unstructured":"Yamauchi A, Iwata H, Ohnishi H, Teramoto T, Kondo N, Seishima M. Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. Br J Dermatol. 2010;163:1351\u20133.","journal-title":"Br J Dermatol"},{"issue":"Suppl","key":"9744_CR14","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.jaut.2005.09.022","volume":"25","author":"P Peterson","year":"2005","unstructured":"Peterson P, Peltonen L. Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. J Autoimmun. 2005;25(Suppl):49\u201355.","journal-title":"J Autoimmun"},{"key":"9744_CR15","doi-asserted-by":"crossref","first-page":"e29248","DOI":"10.1371\/journal.pone.0029248","volume":"6","author":"SP Smeekens","year":"2011","unstructured":"Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LA, et al. STAT1 hyperphosphorylation and defective IL12R\/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS One. 2011;6:e29248.","journal-title":"PLoS One"},{"key":"9744_CR16","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1210\/me.14.3.440","volume":"14","author":"ES Park","year":"2000","unstructured":"Park ES, Kim H, Suh JM, Park SJ, Kwon OY, Kim YK, et al. Thyrotropin induces SOCS-1 (suppressor of cytokine signaling-1) and SOCS-3 in FRTL-5 thyroid cells. Mol Endocrinol. 2000;14:440\u20138.","journal-title":"Mol Endocrinol"},{"key":"9744_CR17","first-page":"2055","volume-title":"Endocrinology","author":"N Amino","year":"2006","unstructured":"Amino N, Hidaka Y. Chronic (Hashimoto\u2019s) thyroiditis. In: DeGroot LJ, Jameson JL, editors. Endocrinology. 5th ed. Philadelphia: Elsevier Saunders; 2006. p. 2055\u201367.","edition":"5"},{"key":"9744_CR18","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1056\/NEJM199202203260803","volume":"326","author":"N Takasu","year":"1992","unstructured":"Takasu N, Yamada T, Takasu M, Komiya I, Nagasawa Y, Asawa T, et al. Disappearance of thyrotropin-blocking antibodies and spontaneous recovery from hypothyroidism in autoimmune thyroiditis. N Engl J Med. 1992;326:513\u20138.","journal-title":"N Engl J Med"},{"key":"9744_CR19","doi-asserted-by":"crossref","unstructured":"Takasu N, Matsushita M. Changes of TSH-Stimulation Blocking Antibody (TSBAb) and Thyroid Stimulating Antibody (TSAb) Over 10\u00a0Years in 34 TSBAb-Positive Patients with Hypothyroidism and in 98 TSAb-Positive Graves\u2019 Patients with Hyperthyroidism: Reevaluation of TSBAb and TSAb in TSH-Receptor-Antibody (TRAb)-Positive Patients. Journal of thyroid research. 2012;2012:182176. (Epub)","DOI":"10.1155\/2012\/182176"},{"key":"9744_CR20","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1002\/hep.23584","volume":"51","author":"MP Manns","year":"2010","unstructured":"Manns MP, Czaja AJ, Gorham JD, Krawitt EL, Mieli-Vergani G, Vergani D, et al. Diagnosis and management of autoimmune hepatitis. Hepatology. 2010;51:2193\u2013213.","journal-title":"Hepatology"},{"issue":"Suppl 1","key":"9744_CR21","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s00535-010-0324-3","volume":"46","author":"EL Krawitt","year":"2011","unstructured":"Krawitt EL. Discrimination of autoimmune hepatitis: autoantibody typing and beyond. J Gastroenterol. 2011;46 Suppl 1:39\u201341.","journal-title":"J Gastroenterol"},{"key":"9744_CR22","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/378088a0","volume":"378","author":"H Okamura","year":"1995","unstructured":"Okamura H, Tsutsi H, Komatsu T, Yutsudo M, Hakura A, Tanimoto T, et al. Cloning of a new cytokine that induces IFN-gamma production by T cells. Nature. 1995;378:88\u201391.","journal-title":"Nature"},{"key":"9744_CR23","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1093\/rheumatology\/keq397","volume":"50","author":"R Priori","year":"2011","unstructured":"Priori R, Barone F, Alessandri C, Colafrancesco S, McInnes IB, Pitzalis C, et al. Markedly increased IL-18 liver expression in adult-onset Still\u2019s disease-related hepatitis. Rheumatology (Oxford). 2011;50:776\u201380.","journal-title":"Rheumatology (Oxford)."},{"key":"9744_CR24","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1006\/bbrc.1999.2064","volume":"267","author":"H Muhl","year":"2000","unstructured":"Muhl H, Kampfer H, Bosmann M, Frank S, Radeke H, Pfeilschifter J. Interferon-gamma mediates gene expression of IL-18 binding protein in nonleukocytic cells. Biochem Biophys Res Commun. 2000;267:960\u20133.","journal-title":"Biochem Biophys Res Commun"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-012-9744-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-012-9744-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-012-9744-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,2]],"date-time":"2019-07-02T04:31:02Z","timestamp":1562041862000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-012-9744-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,31]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["9744"],"URL":"https:\/\/doi.org\/10.1007\/s10875-012-9744-6","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,31]]}}}