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Article

Unexpected and variable phenotypes in a family with JAK3 deficiency.

Genes and immunity - 1 Dec 2001

Frucht D M, Gadina M, Jagadeesh G J, Aksentijevich I, Takada K, Bleesing J J, Nelson J, Muul L M, Perham G, Morgan G, Gerritsen E J, Schumacher R F, Mella P, Veys P A, Fleisher T A, Kaminski E R, Notarangelo L D, O'Shea J J, Candotti F

Abstract excerpt

Mutations of the Janus kinase 3 (JAK3) have been previously described to cause an autosomal recessive variant of severe combined immunodeficiency (SCID) usually characterized by the near absence of T and NK cells, but preserved numbers of B lymphocytes (T-B+SCID). We now report a family whose JAK3 mutations are associated with the persistence of circulating T cells, resulting in previously undescribed clinical...

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Source

Identifiers

PMID: 11781709
DOI: 10.1038/sj.gene.6363802

Genes

JAK3

Variants

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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