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Article

Jak3 and the pathogenesis of severe combined immunodeficiency.

Molecular immunology - 1 Jul 2004

O'Shea John J, Husa Matthew, Li Denise, Hofmann Sigrun R, Watford Wendy, Roberts Joseph L, Buckley Rebecca H, Changelian Paul, Candotti Fabio

Abstract excerpt

The discovery that Jak3 mutations are a significant cause of severe combined immunodeficiency (SCID), a rare inherited defect characterized by lymphopenia, has provided valuable insights into the functions of Jak3 in lymphoid development and function. The current therapy for patients suffering from Jak3 SCID is hematopoetic stem cell transplantation, although gene therapy trials have also been performed. In lieu...

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Source

Identifiers

PMID: 15220007
DOI: 10.1016/j.molimm.2004.04.014

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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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