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Article

Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Kalman Lisa, Lindegren Mary Lou, Kobrynski Lisa, Vogt Robert, Hannon Harry, Howard Joelyn Tonkin, Buckley Rebecca

Abstract excerpt

Severe combined immunodeficiency (SCID) is an inherited immune disorder characterized by T-cell lymphopenia (TCLP), a profound lack of cellular (T-cell) and humoral (B-cell) immunity and, in some cases, decreased NK-cell number and function. Affected children develop severe bacterial and viral in...

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Source

Identifiers

PMID: 14726805
DOI: 10.1097/01.GIM.0000105752.80592.A3

Genes

ADA
JAK3
RAG1
RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14726805-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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