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Article

Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.

Blood - 15 Mar 2004

Roberts Joseph L, Lengi Andrea, Brown Stephanie M, Chen Min, Zhou Yong-Jie, O'Shea John J, Buckley Rebecca H

Abstract excerpt

We found 10 individuals from 7 unrelated families among 170 severe combined immunodeficiency (SCID) patients who exhibited 9 different Janus kinase 3 (JAK3) mutations. These included 3 missense and 2 nonsense mutations, 1 insertion, and 3 deletions. With the exception of 1 individual with persistence of transplacentally transferred maternal lymphocytes, all infants presented with a T-B+NK- phenotype. The patient...

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Source

Identifiers

PMID: 14615376
DOI: 10.1182/blood-2003-06-2104

Genes

JAK3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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