Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype
نویسندگان
چکیده
منابع مشابه
Heterozygous 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: Frontiers in Immunology
سال: 2020
ISSN: 1664-3224
DOI: 10.3389/fimmu.2020.01114