{"doi":"10.3389/fimmu.2021.760019","title":"Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association","abstract":"Purpose Heterozygous missense STAT1 mutations leading to a gain of function (GOF) are the most frequent genetic cause of chronic mucocutaneous candidiasis (CMC). We describe the case of a patient presenting a new GOF mutation of STAT1 with the clinical symptoms of CMC, recurrent pneumonia, and persistent central erythema with papulopustules with ocular involvement related to rosacea-like demodicosis. Methods Genetic analysis via targeted next-generation sequencing (NGS; NGS panel DIPAI v.1) exploring the 98 genes most frequently involved in primary immunodeficiencies, including STAT1 , was performed to identify an underlying genetic defect. Results NGS identified a novel variant of STAT1 , c.884C>A (exon 10), p.T295Y, not previously described. This variant was found to be gain of function using an in vitro luciferase reporter assay. Rosacea-like demodicosis was confirmed by substantial Demodex proliferation observed via the microscopic examination of a cutaneous sample. A review of literature retrieved 20 other cases of STAT1 GOF mutations associated with early-onset rosacea-like demodicosis, most with ocular involvement. Conclusion We describe a new STAT1 GOF mutation associated with a phenotype of CMC and rosacea-like demodicosis. Rosacea-like demodicosis appears as a novel and important clinical phenotype among patients with STAT1 GOF mutation.","journal":"Frontiers in Immunology","year":2021,"id":187549,"datarank":0.44166584687496613,"base_score":2.9444389791664403,"endowment":2.9444389791664403,"self_citation_contribution":0.44166584687496613,"citation_network_contribution":0.0,"self_endowment_contribution":0.44166584687496613,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":18,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9524,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":658469,"name":"Anne‐Sophie Korganow","orcid":"0000-0002-1664-6311","position":1,"is_corresponding":false},{"id":747689,"name":"Mathieu Wald","orcid":null,"position":2,"is_corresponding":false},{"id":747690,"name":"J. Second","orcid":null,"position":3,"is_corresponding":false},{"id":747691,"name":"E. Birckel","orcid":null,"position":4,"is_corresponding":false},{"id":747692,"name":"A. Mahé","orcid":null,"position":5,"is_corresponding":false},{"id":747693,"name":"L. Souply","orcid":null,"position":6,"is_corresponding":false},{"id":747694,"name":"M. Mohseni-Zadeh","orcid":null,"position":7,"is_corresponding":false},{"id":747695,"name":"Laure Droy","orcid":null,"position":8,"is_corresponding":false},{"id":747696,"name":"Julien Tarabeux","orcid":null,"position":9,"is_corresponding":false},{"id":241317,"name":"Satoshi Okada","orcid":"0000-0002-4622-5657","position":10,"is_corresponding":false},{"id":104177,"name":"Mélanie Migaud","orcid":"0000-0003-3062-1214","position":11,"is_corresponding":false},{"id":104226,"name":"Anne Puel","orcid":"0000-0003-2603-0323","position":12,"is_corresponding":false},{"id":747148,"name":"Aurélien Guffroy","orcid":"0000-0003-0615-5305","position":13,"is_corresponding":false},{"id":747688,"name":"M. Martinot","orcid":null,"position":0,"is_corresponding":true}],"reference_count":31,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:48:55.420619Z","pmid":"34987506","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}