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Article

A case of aberrant CD8 T cell-restricted IL-7 signaling with a Janus kinase 3 defect-associated atypical severe combined immunodeficiency.

Immunologic research - 1 Feb 2020

Khanolkar Aaruni, Wilks Jeffrey D, Liu Guorong, Simpson Bridget M, Caparelli Edward A, Kirschmann Dawn A, Bergerson Jenna, Fuleihan Ramsay L

Abstract excerpt

Severe combined immunodeficiency (SCID) disorders compromise lymphocyte numbers and/or function. One subset of SCID typically affects T cell and Natural Killer (NK) cell development in tandem (T-B+NK-) due to mutations arising in the genes encoding the common γ chain or Janus Kinase 3 (JAK3). In rare circumstances, mutations in the JAK3 gene have been reported to cause atypical SCID that selectively affects T...

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Source

Identifiers

PMID: 32215810
DOI: 10.1007/s12026-020-09123-x

Genes

JAK3
CD4

Variants

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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