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Article

Tofacitinib as a Successful Treatment for Hyper-IgE Syndrome and Autoimmunity Associated with Constitutive Activation of JAK3.

Journal of clinical immunology - 9 May 2026

Pei Yuxin, Jin Bei, Abasi Reyila, Cheng Cheng, Zhuang Hongjie, Zeng Shuhan, Jiang Mengjie, Pei Heying, Jiang Xiaoyun

Abstract excerpt

The Janus Kinase 3 (JAK3) germline gain-of-function (GOF) mutation is a rare inborn error of immunity, first reported in 2020, characterized by lymphopenia and chronic NK-cell proliferation. However, its role in autoimmunity remains unclear, and no direct association with hyper-IgE syndrome (HIES) has been established. In this study, we describe a patient presenting with HIES, myositis, lymphopenia, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42105147
DOI: 10.1007/s10875-026-02027-9
PMCID: PMC13328136

Genes

JAK3
CD4
JAK1
STAT3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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