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Article

A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis.

Clinical immunology (Orlando, Fla.) - 1 Oct 2017

Qamar Farah, Junejo Samina, Qureshi Sonia, Seleman Michael, Bainter Wayne, Massaad Michel, Chou Janet, Geha Raif S

Abstract excerpt

JAK3 is a tyrosine kinase essential for signaling downstream of the common gamma chain subunit shared by multiple cytokine receptors. JAK3 deficiency results in T-B+NK- severe combined immune deficiency (SCID). We report a patient with SCID due to a novel mutation in the JAK3 JH4 domain. The function of the JH4 domain remains unknown. This is the first report of a missense mutation in the JAK3 JH4 domain, thereby...

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Source

Identifiers

PMID: 28917720
DOI: 10.1016/j.clim.2017.09.007

Genes

JAK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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