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Article

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

Nature - 7 Sept 1995

Macchi P, Villa A, Giliani S, Sacco M G, Frattini A, Porta F, Ugazio A G, Johnston J A, Candotti F, O'Shea J J

Abstract excerpt

Severe combined immune deficiency (SCID) represents a heterogenous group of hereditary diseases. Mutations in the common gamma-chain (gamma c), which is part of several cytokine receptors including those for interleukin (IL)-2, IL-4, IL-7, IL-9 and IL-15, are responsible for X-linked SCID, which is usually associated with a lack of circulating T cells and the presence of B lymphocytes (T- B+ SCID). The gene(s)...

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PMID: 7659163
DOI: 10.1038/377065a0

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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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