التفاصيل البيبلوغرافية
| العنوان: |
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. |
| المؤلفون: |
Martinot, Martin, Korganow, Anne Sophie, Wald, Mathieu, Second, Julie, Birckel, Elodie, Mahé, Antoine, Souply, Laurent, Mohseni-Zadeh, Mahsa, Droy, Laure, Tarabeux, Julien, Okada, Satoshi, Migaud, Mélanie, Puel, Anne, Guffroy, Aurelien |
| المصدر: |
Frontiers in Immunology; 12/20/2021, Vol. 12, p1-7, 7p |
| مصطلحات موضوعية: |
GAIN-of-function mutations, STAT proteins, AGAMMAGLOBULINEMIA, CANDIDIASIS, PRIMARY immunodeficiency diseases, MISSENSE mutation |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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