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Article

Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.

Blood - 1 Aug 1996

Villa A, Sironi M, Macchi P, Matteucci C, Notarangelo L D, Vezzoni P, Mantovani A

Abstract excerpt

Janus kinase-3 (Jak3) is a nonreceptor tyrosine kinase functionally coupled to cytokine receptors which share a "common" gamma chain (gamma c). Mutations in gamma c and Jak3 genes have been identified in X-linked and autosomal severe combined immuno deficiency (SCID), respectively. Jak3 is expressed and activated in myelomonocytic cells. The present study was designed to define the structural alteration...

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Identifiers

PMID: 8704236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.PMID 8704236Read ↗

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