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We conducted a cross-sectional study at Ibn Rochd University Hospital, Casablanca (2016\u20132021), enrolling patients with persistent or recurrent mucocutaneous and\/or invasive fungal disease. Whole-exome and\/or Sanger sequencing were performed, with pathogenicity assessed using ACMG\/AMP criteria. We identified 12 patients from 11 kindreds carrying 10 distinct heterozygous STAT1 GOF variants. CMC was the dominant manifestation (11\/12, 91%). Mycobacterial infections were documented in 42% of patients and bacterial infections in 50%; one patient presented with cryptococcal meningitis. Autoimmunity was observed in three patients. Two patients died. The c.194A&amp;gt;G (p.D65G) variant, found in a father\u2013son pair, may represent the first clinical description of this substitution as a STAT1 GOF variant. This first dedicated Moroccan cohort demonstrates substantial allelic heterogeneity and a clinical phenotype dominated by infections, particularly tuberculosis, with less frequent autoimmune manifestations than in Western cohorts.<\/jats:p>","DOI":"10.70962\/jhi.20250021","type":"journal-article","created":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T06:21:29Z","timestamp":1783405289000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["STAT1 gain-of-function in 12 Moroccan patients: Clinical and genetic insights"],"prefix":"10.70962","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5672-636X","authenticated-orcid":true,"given":"Bouchra","family":"Baghad","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/001q4kn48","id-type":"ROR","asserted-by":"publisher"}],"name":"Hassan II University 1 Laboratory of Clinical Immunology, Infection and Allergy, Faculty of Medicine and 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