{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:08:07Z","timestamp":1789178887263,"version":"build-2803163510"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2013,12,16]],"date-time":"2013-12-16T00:00:00Z","timestamp":1387152000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100000646","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22591161"],"award-info":[{"award-number":["22591161"]}],"id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research on Measures for Intractable Diseases"},{"name":"Japanese Ministry of Health, Labor and Welfare","award":["H22-Nanchi-ippan-078"],"award-info":[{"award-number":["H22-Nanchi-ippan-078"]}]},{"DOI":"10.13039\/100012007","name":"The Rockefeller University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012007","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000097","name":"National Center for Research Resources","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000097","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"U.S. National Institutes of Health","doi-asserted-by":"crossref","award":["8UL1TR000043"],"award-info":[{"award-number":["8UL1TR000043"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100002350","name":"St. Giles Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002350","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001961","name":"AXA Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001961","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003442","name":"Stony Wold-Herbert Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003442","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Analysis Center of Life Science, Natural Science Center for Basic Research and Development, Hiroshima University"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12,16]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and mucosal membrane infections caused by Candida albicans. Heterozygous GOF STAT1 mutations have been shown to confer AD CMCD as a result of impaired dephosphorylation of STAT1. We aimed to identify and characterize STAT1 mutations in CMCD patients and to develop a simple diagnostic assay of CMCD. Genetic analysis of STAT1 was performed in patients and their relatives. The mutations identified were characterized by immunoblot and reporter assay using transient gene expression experiments. Patients' leukocytes are investigated by flow cytometry and immunoblot. Six GOF mutations were identified, three of which are reported for the first time, that affect the CCD and DBD of STAT1 in two sporadic and four multiplex cases in 10 CMCD patients from Japan. Two of the 10 patients presented with clinical symptoms atypical to CMCD, including other fungal and viral infections, and three patients developed bronchiectasis. Immunoblot analyses of patients' leukocytes showed abnormally high levels of pSTAT1 following IFN-\u03b3 stimulation. Based on this finding, we performed a flow cytometry-based functional analysis of STAT1 GOF alleles using IFN-\u03b3 stimulation and the tyrosine kinase inhibitor, staurosporine. The higher levels of pSTAT1 observed in primary CD14+ cells from patients compared with control cells persisted and were amplified by the presence of staurosporine. We developed a flow cytometry-based STAT1 functional screening method that would greatly facilitate the diagnosis of CMCD patients with GOF STAT1 mutations.<\/jats:p>","DOI":"10.1189\/jlb.0513250","type":"journal-article","created":{"date-parts":[[2013,12,17]],"date-time":"2013-12-17T03:18:09Z","timestamp":1387250289000},"page":"667-676","source":"Crossref","is-referenced-by-count":76,"title":["Simple diagnosis of<i>STAT1<\/i>gain-of-function alleles in patients with chronic mucocutaneous candidiasis"],"prefix":"10.1093","volume":"95","author":[{"given":"Yoko","family":"Mizoguchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miyuki","family":"Tsumura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences , Japan"},{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University , New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Hirata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shizuko","family":"Minegishi","sequence":"additional","affiliation":[{"name":"Division of Molecular Medicine, Institute for Genome Research, The University of Tokushima , 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Hospital , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin'ichiro","family":"Yasunaga","sequence":"additional","affiliation":[{"name":"Department of Stem Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiro","family":"Takihara","sequence":"additional","affiliation":[{"name":"Department of Stem Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa L","family":"Bryant","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University , New York, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Fei","family":"Kong","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, 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