موتاسیون منجر به افزایش عملکرد ژن استات1 :ژن جدید عامل ایجاد بیماری کاندیدیازیس مزمن پوستی مخاطی

اسلامی, نرگس and نبوی, محمد and توکل, مرضیه and مصداقی, مهرناز and قره گوزلو, محمد and Casanova, Jean-Laurent and puel, Anne and Okada, Satoshi and عرشی, صبا and بمانیان, محمد حسن and فلاح پور, مرتضی and ملاطفی, رسول and سیف, فرهاد and ذوقی, سمانه and رضایی, نیما (1396) موتاسیون منجر به افزایش عملکرد ژن استات1 :ژن جدید عامل ایجاد بیماری کاندیدیازیس مزمن پوستی مخاطی. Acta Microbiologica et Immunologica Hungarica ــ 64 (2). pp. 191-201. شاپا 1217-8950

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Official URL: https://akademiai.com/doi/abs/10.1556/030.64.2017....


A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis

English Abstract

Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) have increasingly been identified as a genetic cause of autosomal-dominant (AD) chronic mucocutaneous candidiasis (CMC). In this article, we describe a 33-year-old man who experienced chronic refractory candidiasis, recurrent otitis media, and pneumonia resulting in bronchiectasis, severe oral and esophageal candidiases with strictures associated with hypothyroidism and immune hemolytic anemia. His son also suffered from persistent candidiasis, chronic diarrhea, poor weight gain, and pneumonia that resulted in his demise because of sepsis. The immunological workup showed that an inverse CD4/CD8 ratio and serum immunoglobulins were all within normal ranges. The laboratory data revealed failure in response to Candida lymphocyte transformation test. In addition, by Sanger sequencing method, we found a heterozygous mutation, Thr385Met (T385M), located in the DNA-binding domain of STAT1, which was previously shown to be GOF. These findings illustrate the broad and variable clinical phenotype of heterozygous STAT1 GOF mutations. However, more clinical information and phenotype–genotype studies are required to define the clinical phenotype caused by AD STAT1 GOF.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :نرگس اسلامی
نویسنده مسئول :محمد نبوی
نویسنده :مرضیه توکل
نویسنده :مهرناز مصداقی
نویسنده :محمد قره گوزلو
نویسنده :Jean-Laurent Casanova
نویسنده :Anne puel
نویسنده :Satoshi Okada
نویسنده :صبا عرشی
نویسنده :محمد حسن بمانیان
نویسنده :مرتضی فلاح پور
نویسنده :رسول ملاطفی
نویسنده :فرهاد سیف
نویسنده :سمانه ذوقی
نویسنده :نیما رضایی
Additional Information:IF: 1.079 Indexed in: ISI, Scopus, PubMed/Medline, Embase
کلیدواژه ها (انگلیسی):stat1, new mutation, chronic mucocutaneus candidiasis
Subjects:QW Microbiology and Immunology
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:11712
Deposited By: Dr Rasool Molatefi
Deposited On:12 Aug 1398 14:54
Last Modified:12 Aug 1398 14:54

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