Learning while treating: Gain-of-function STAT6 variants in severe allergic disease
- PMID: 37196636
- PMCID: PMC10213836
- DOI: 10.1016/j.xcrm.2023.101040
Learning while treating: Gain-of-function STAT6 variants in severe allergic disease
Abstract
In an era of rapid identification of inborn errors of immunity, Sharma et al.1 report novel heterozygous gain-of-function variants in the signal transducer and activator of transcription 6 (STAT6) gene in individuals with severe and early onset multi-systemic allergic disease.
Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.
Conflict of interest statement
Declaration of interests The authors declare no competing interests.
Comment on
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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
References
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- Sharma M., Leung D., Momenilandi M., Jones L.C.W., Pacillo L., James A.E., Murrell J.R., Delafontaine S., Maimaris J., Vaseghi-Shanjani M., et al. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. J. Exp. Med. 2023;220:e20221755. doi: 10.1084/jem.20221755. - DOI - PMC - PubMed
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- Del Bel K.L., Ragotte R.J., Saferali A., Lee S., Vercauteren S.M., Mostafavi S.A., Schreiber R.A., Prendiville J.S., Phang M.S., Halparin J., et al. JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. J. Allergy Clin. Immunol. 2017;139:2016–2020.e5. doi: 10.1016/j.jaci.2016.12.957. - DOI - PubMed
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