Unraveling the immunogenetics of STAT proteins: Clinical perspectives on gain-of-function and loss-of-function variants
Kornvalee Meesilpavikkai,1 Nattiya Hirankarn,1,2 Virgil A.S.H. Dalm,3,4,5 P. Martin van Hagen,3,4,5 Willem A. Dik,3,4,5 Hanna IJspeert3,4
Affiliations:
1 Department of Microbiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
2 Center of Excellence in Immunology and Immune-Mediated Diseases, Chulalongkorn University, Bangkok, Thailand
3 Department of Immunology, aLaboratory Medical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands
4 Department of Internal Medicine, Division of Clinical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands
5 Academic Center for Rare Immune Diseases (RIDC), Erasmus University Medical Center, Rotterdam, The Netherlands
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.
Key words: STAT Proteins, gain-of-function variants, loss-of-function variants, immune dysregulation, primary immunodeficiency
Citation:
Meesilpavikkai, K., Hirankarn, N., Dalm, V. A. S. H., van Hagen, P. M., Dik, W. A., IJspeert, H. (2024). Unraveling the immunogenetics of STAT proteins: Clinical perspectives on gain-of-function and loss-of-function variants. Asian Pac J Allergy Immunol, 42(2), 105-122. https://doi.org/10.12932/ap-270124-1776