Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
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چکیده
منابع مشابه
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510.
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The p53 tumor suppressor gene is the most frequently mutated gene in human cancers, and germ-line p53 mutations cause a familial predisposition for cancer. Germ-line or sporadic p53 mutations are usually missense and typically affect the central DNA-binding domain of the protein. Because p53 functions as a tetrameric transcription factor, mutant p53 is thought to inhibit the function of wild-ty...
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BACKGROUND Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to candida infection of skin, nails, and mucous membranes. Patients with recessive CMC and autoimmunity have mutations in the autoimmune regulator AIRE. The cause of autosomal dominant CMC is unknown. METHODS We evaluated 14 patients from five families with autosomal dominant CMC. We incubated their peripher...
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15 صفحه اولHeterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical f...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2013
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2012.11.054