{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T01:03:35Z","timestamp":1791594215600,"version":"4.3.4"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T00:00:00Z","timestamp":1601337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2020.557521","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T06:10:37Z","timestamp":1601359837000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":14,"title":["Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation"],"prefix":"10.3389","volume":"11","author":[{"given":"Kazuki","family":"Nemoto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshinori","family":"Kawanami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Hoshina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Ishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Yamasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Yatera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Kusuhara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2020,9,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1056\/NEJMoa1100102","article-title":"STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis","volume":"365","author":"van de Veerdonk","year":"2011","journal-title":"N Engl J Med"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110958","article-title":"Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis","volume":"208","author":"Liu","year":"2011","journal-title":"J Exp Med"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-11-679902","article-title":"Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype","volume":"127","author":"Toubiana","year":"2016","journal-title":"Blood"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2013.01.004","article-title":"Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival","volume":"131","author":"Romberg","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1007\/s10875-015-0214-9","article-title":"The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1","volume":"36","author":"Depner","year":"2016","journal-title":"J Clin Immunol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.09.035","article-title":"Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants","volume":"140","author":"Kagawa","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.05.026","article-title":"Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards","volume":"155","author":"Morinishi","year":"2009","journal-title":"J Pediatr"},{"key":"B8","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1007\/s10875-017-0464-9","article-title":"International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity","volume":"38","author":"Picard","year":"2018","journal-title":"J Clin Immunol"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2012.02.013","article-title":"Prostaglandin E2 suppresses antifungal immunity by inhibiting interferon regulatory factor 4 function and interleukin-17 expression in T cells","volume":"36","author":"Valdez","year":"2012","journal-title":"Immunity"},{"key":"B10","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1016\/j.jaci.2015.07.003","article-title":"Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome","volume":"136","author":"Odio","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"B11","article-title":"Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway","volume":"96","author":"Nomura","year":"2000","journal-title":"Blood"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-05-024430","article-title":"STAT3 positively regulates an early step in B-cell development","volume":"108","author":"Chou","year":"2006","journal-title":"Blood"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20151620","article-title":"STAT1 regulates marginal zone B cell differentiation in response to inflammation and infection with blood-borne bacteria","volume":"213","author":"Chen","year":"2016","journal-title":"J Exp Med"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1016\/j.virol.2017.12.013","article-title":"Murine norovirus inhibits B cell development in the bone marrow of STAT1-deficient mice","volume":"515","author":"Hsu","year":"2018","journal-title":"Virology"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2265-1","article-title":"Whole-genome sequencing of a sporadic primary immunodeficiency cohort","volume":"583","author":"Thaventhiran","year":"2020","journal-title":"Nature"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2020.557521\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T06:10:40Z","timestamp":1601359840000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2020.557521\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,29]]},"references-count":15,"alternative-id":["10.3389\/fimmu.2020.557521"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2020.557521","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,29]]},"article-number":"557521"}}