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We describe an unusual genotype\/phenotype: disseminated mycobacterial infection without chronic mucocutaneous candidiasis in the context of a pathogenic STAT1 gain-of-function variant (p.Lys388Glu). To our knowledge, this is the first report of such a case.<\/jats:p>","DOI":"10.70962\/jhi.20250139","type":"journal-article","created":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T06:21:34Z","timestamp":1786170094000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["<i>STAT1<\/i>\n                    gain-of-function variant in a previously healthy patient with disseminated\n                    <i>Mycobacterium genavense<\/i>\n                    infection"],"prefix":"10.70962","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2595-3461","authenticated-orcid":true,"given":"Kavitha","family":"Thiagarajan","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"University of California, Los Angeles 1 Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, , Los Angeles, CA,","place":["USA"]},{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"University of California, San Francisco 4 Division of Pulmonary, Critical Care, Allergy, and Sleep Medicine, Department of Internal Medicine, , San Francisco, CA,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6370-1811","authenticated-orcid":true,"given":"Huan Vinh","family":"Dong","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"David Geffen School of Medicine, University of California, Los Angeles 2 Pediatric Infectious Diseases, , Los Angeles, CA,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9302-0187","authenticated-orcid":true,"given":"Caroline Y.","family":"Kuo","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"University of California, Los Angeles 1 Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, , Los Angeles, CA,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4121-0453","authenticated-orcid":true,"given":"Timothy J.","family":"Thauland","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"University of California, Los Angeles 1 Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, , Los Angeles, CA,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1490-2374","authenticated-orcid":true,"given":"Sheeja","family":"Pullarkat","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"University of California, Los Angeles 3 Department of Pathology, , Los Angeles, CA,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4490-5595","authenticated-orcid":true,"given":"Manish J.","family":"Butte","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"University of California, Los Angeles 1 Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, , Los Angeles, CA,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3763-7702","authenticated-orcid":true,"given":"Maria I.","family":"Garcia-Lloret","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"University of California, Los Angeles 1 Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, , Los Angeles, CA,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1742-5211","authenticated-orcid":true,"given":"Karin","family":"Nielsen-Saines","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/046rm7j60","id-type":"ROR","asserted-by":"publisher"}],"name":"David Geffen School of Medicine, University of California, Los Angeles 2 Pediatric Infectious Diseases, , Los Angeles, CA,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2026,8,25]]},"reference":[{"key":"2026082510095035300_bib1","doi-asserted-by":"publisher","first-page":"1665","DOI":"10.1016\/j.jaci.2018.07.020","article-title":"Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations","volume":"142","author":"Forbes","year":"2018","journal-title":"J. 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