A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis
نویسندگان
چکیده
منابع مشابه
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases characterized by chronic and recurrent Candida infections of the skin, nails, and oropharynx. Gain-of-function mutations in STAT1 were very recently shown to be responsible for autosomal-dominant or sporadic cases of CMC. The reported mutations have been exclusively localized in the coiled-coil...
متن کاملGain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition ...
متن کاملGain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies
Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages...
متن کاملA gain-of-function mutation of STAT1 in a 3-year-old child with chronic mucocutaneous candidiasis and autoimmune hepatitis: a case report
Background Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases (PID) characterized by chronic and recurrent infections of the skin, nails, and oropharynx, mostly caused by Candida sp. CMC is often associated with autoimmune and endocrine disorders. However, CMC may be the only or the main phenotype in patients with AD IL-17F and AR IL-17RA defic...
متن کاملNew and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
BACKGROUND Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1. Several mutations, including R274W in particular, are recurrent, but the underlying mechanism is unclear. OBJECTIVE To investigate and describe nine patients...
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ژورنال
عنوان ژورنال: Acta Microbiologica et Immunologica Hungarica
سال: 2017
ISSN: 1217-8950,1588-2640
DOI: 10.1556/030.64.2017.014