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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
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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
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Journal Article
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
2021
Overview
Heterozygous missense
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
with the clinical symptoms of CMC, recurrent pneumonia, and persistent central erythema with papulopustules with ocular involvement related to rosacea-like demodicosis.
Genetic analysis
targeted next-generation sequencing (NGS; NGS panel DIPAI v.1) exploring the 98 genes most frequently involved in primary immunodeficiencies, including
, was performed to identify an underlying genetic defect.
NGS identified a novel variant of
, c.884C>A (exon 10), p.T295Y, not previously described. This variant was found to be gain of function using an
luciferase reporter assay. Rosacea-like demodicosis was confirmed by substantial
proliferation observed
the microscopic examination of a cutaneous sample. A review of literature retrieved 20 other cases of
GOF mutations associated with early-onset rosacea-like demodicosis, most with ocular involvement.
We describe a new
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
GOF mutation.
Publisher
Frontiers Media SA,Frontiers Media S.A
Subject
/ Age
/ Biopsy
/ Candidiasis, Chronic Mucocutaneous - genetics
/ Candidiasis, Chronic Mucocutaneous - pathology
/ Chronic mucocutaneous candidiasis
/ Demodex
/ Erythema
/ Female
/ Humans
/ IL-17
/ Kinases
/ Mite Infestations - genetics
/ Mite Infestations - pathology
/ Mutation
/ Patients
/ Plasmids
/ Proteins
/ Rosacea
