학술논문
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.
Document Type
Article
Source
Subject
*GAIN-of-function mutations
*STAT proteins
*FUNCTIONAL analysis
*IMMUNITY
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Language
ISSN
0009-9104
Abstract
STAT1 dysfunction causes a wide range of immune dysregulation phenotypes, which have been classified into four disease types, namely, (i) autosomal recessive (AR) complete STAT1 deficiency, (ii) AR partial STAT1 deficiency, (iii) autosomal dominant (AD) STAT1 deficiency, and (iv) AD STAT1 gain of function (GOF), based on their mode of inheritance and function. Disease types (i, ii, and iii) are caused by STAT1 loss-of-function (LOF) mutations, whereas disease type (iv) is caused by STAT1 GOF mutations. Therefore, the functional analysis of mutations is necessary for the precise diagnosis. Graphical Abstract [ABSTRACT FROM AUTHOR]