{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T05:39:31Z","timestamp":1787031571978,"version":"build-2736575974"},"reference-count":11,"publisher":"Termedia Sp. z.o.o.","issue":"1","license":[{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"},{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"},{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cent Eur J Immunol"],"abstract":"<jats:p>We present a case of a white adult female patient who suffered from chronic mucocutaneous candidiasis (CMC) since infancy. Her parents were not consanguineous, and neither of them nor any other family member, including an older sister, suffered from similar symptoms. The patient often received prolonged courses of antifungal antibiotics, but the regimens were always insufficiently effective. The differential diagnosis included atopic dermatitis or acrodermatitis enteropathica, a rare, usually genetic disorder of zinc metabolism characterized by pustular dermatitis, diarrhea, and nail dystrophy. At the age of 18, the patient was diagnosed with type 1 diabetes mellitus. Five years later, human immunoglobulin substitution was started due to immunoglobulin (Ig) G2 and IgG4 mild deficiency.<\/jats:p>","DOI":"10.5114\/ceji.2022.114884","type":"journal-article","created":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T04:30:07Z","timestamp":1652157007000},"page":"92-94","source":"Crossref","is-referenced-by-count":8,"title":["Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib"],"prefix":"10.5114","volume":"47","author":[{"given":"Stanis\u0142awa","family":"Bazan-Socha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ada","family":"Gradzikiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Celi\u0144ska-Lowenhoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Matyja-Bednarczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Macio\u0142ek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"B\u0105bol-Pokora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3061","published-online":{"date-parts":[[2022,5,10]]},"reference":[{"key":"ref-1539083","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz J","year":"2014","unstructured":"Schwarz J, Cooper D, Schuelke M, et al. (2014): MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11: 361-362.","journal-title":"Nat Methods"},{"key":"ref-1539084","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei IA","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, et al. (2010): A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.","journal-title":"Nat Methods"},{"key":"ref-1539085","first-page":"1","article-title":"Application of flow cytometry in the diagnostics pipeline of primary immunodeficiencies underlying disseminated Talaromyces Marneffei infection in HIV-negative children","volume":"10","author":"Lee PP","year":"2019","unstructured":"Lee PP, Lao-Araya M, Yang J, et al. (2019): Application of flow cytometry in the diagnostics pipeline of primary immunodeficiencies underlying disseminated Talaromyces Marneffei infection in HIV-negative children. Front Immunol 10: 1-13.","journal-title":"Front Immunol"},{"key":"ref-1539086","doi-asserted-by":"crossref","first-page":"3154","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 J","year":"2016","unstructured":"Toubiana J, Okada S, Hiller J, et al. (2016): Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 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J Allergy Clin Immunol 139: 1629-1640.e2.","journal-title":"J Allergy Clin Immunol"},{"key":"ref-1539089","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s10875-018-0519-6","article-title":"Utility of ruxolitinib in a child with chronic mucocutaneous candidiasis caused by a novel STAT1 gain-of-function mutation","volume":"38","author":"Bloomfield M","year":"2018","unstructured":"Bloomfield M, Kanderov\u00e1 V, Para\u010dkov\u00e1 Z, et al. (2018): Utility of ruxolitinib in a child with chronic mucocutaneous candidiasis caused by a novel STAT1 gain-of-function mutation. 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