Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1

Takaki Asano; Takanori Utsumi; Reiko Kagawa; Shuhei Karakawa; Satoshi Okada

doi:10.1093/cei/uxac106

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1

Clin Exp Immunol. 2023 Apr 25;212(2):96-106. doi: 10.1093/cei/uxac106.

Authors

Takaki Asano¹, Takanori Utsumi¹, Reiko Kagawa¹, Shuhei Karakawa¹, Satoshi Okada¹

Affiliation

¹ Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

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.

Keywords: Mendelian susceptibility to mycobacteria; STAT1; chronic mucocutaneous candidiasis; gain of function; inborn errors of immunity; loss of function.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Candidiasis, Chronic Mucocutaneous* / genetics
Gain of Function Mutation
Germ-Line Mutation*
Humans
Mutation
STAT1 Transcription Factor / metabolism

Substances

STAT1 protein, human
STAT1 Transcription Factor