Unraveling the immunogenetics of STAT proteins: Clinical perspectives on gain-of-function and loss-of-function variants

被引：0

作者：

Meesilpavikkai, Kornvalee ^{[1
]}

Hirankarn, Nattiya ^{[1
,2
,6
]}

Dalm, Virgil A. S. H. ^{[3
,4
,5
]}

van Hagen, P. Martin ^{[3
,4
,5
]}

Dik, Willem A. ^{[3
,4
,5
]}

Ijspeert, Hanna ^{[3
,4
]}

机构：

[1] Chulalongkorn Univ, Fac Med, Dept Microbiol, Bangkok 10330, Thailand

[2] Chulalongkorn Univ, Ctr Excellence Immunol & Immune Mediated Dis, Bangkok, Thailand

[3] Erasmus Univ, Med Ctr, Dept Immunol, Lab Med Immunol, Rotterdam, Netherlands

[4] Erasmus Univ, Med Ctr, Dept Internal Med, Div Clin Immunol, Rotterdam, Netherlands

[5] Erasmus Univ, Med Ctr, Acad Ctr Rare Immune Dis RIDC, Rotterdam, Netherlands

[6] Chulalongkorn Univ, Fac Med, Ctr Excellence Immunol & Immune Mediated Dis, Dept Microbiol, Bangkok 10330, Thailand

来源：

ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY | 2024年 / 42卷 / 02期

关键词：

STAT Proteins; gain-of-function variants; loss-of-function variants; immune dysregulation; primary immunodeficiency; HYPER-IGE SYNDROME; CHRONIC MUCOCUTANEOUS CANDIDIASIS; SIGNAL TRANSDUCER; TRANSCRIPTION FACTOR; IFN-GAMMA; FUNCTION MUTATIONS; INBORN-ERRORS; RHEUMATOID-ARTHRITIS; IMMUNE DYSREGULATION; TARGETED DISRUPTION;

D O I：

10.12932/ap-270124-1776

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Signal Transducer and Activator of Transcription (STAT) proteins play pivotal roles in immune regulation. The dysregulation of these proteins, attributed to both gain-of-function (GOF) and loss-of-function (LOF) variants, has emerged as a substantial and intricate area of research. This comprehensive review delves into the intricate details of the diverse clinical spectrum associated with STAT variants and the immunological findings linked to these genetic alterations. Although this review does not encompass the treatment of each individual disease, we discuss investigative approaches ranging from immunophenotyping assessment to evaluation of STAT protein activity. These investigations play a crucial role in identifying affected patients and understanding the complexities of STAT.

引用

页码：105 / 122

页数：18

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