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Article

Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

Blood - 15 Nov 1997

Candotti F, Oakes S A, Johnston J A, Giliani S, Schumacher R F, Mella P, Fiorini M, Ugazio A G, Badolato R, Notarangelo L D, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese R M, O'Shea J J, Villa A

Abstract excerpt

Mutations of the Janus family kinase JAK3 have been found to be responsible for autosomal recessive severe combined immunodeficiency (SCID) in humans. We report here the analysis of four new unrelated patients affected by JAK3-deficient SCID. The genetic defects were heterogeneous and included a large intragenic deletion as well as different point mutations, leading to missense substitutions, early stop codons,...

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Source

Identifiers

PMID: 9354668

Genes

JAK3
STAT6

Provenance

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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