Unraveling the Immunogenetics of STAT Proteins: Clinical Perspectives on Gain-of-Function and Loss-of-Function Variants

Kornvalee Meesilpavikkai*, Nattiya Hirankarn*, Virgil A.S.H. Dalm, P. Martin van Hagen, Willem A. Dik, Hanna IJspeert

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)105-122
Number of pages18
JournalAsian Pacific Journal of Allergy and Immunology
Volume42
Issue number2
DOIs
Publication statusPublished - 1 Jun 2024

Bibliographical note

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© 2024, Allergy and Immunology Society of Thailand. All rights reserved.

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