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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&amp;gt;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.

frontiers in immunology

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