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Article

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.

Genes and immunity - 1 Nov 2020

Goldberg Lior, Simon Amos J, Lev Atar, Barel Ortal, Stauber Tali, Kunik Vered, Rechavi Gideon, Somech Raz

Abstract excerpt

Mutations in the common gamma chain of the interleukin 2 receptor (IL2RG) or the associated downstream signaling enzyme Janus kinase 3 (JAK3) genes are typically characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-negative (T-B+NK-) severe combined immunodeficiency (SCID) immune phenotype. We report clinical course, immunological, genetic and proteomic work-up of two patients with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32921793
DOI: 10.1038/s41435-020-00111-7

Genes

JAK3
IL2RG

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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