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Article

Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain.

Frontiers in immunology - 1 Jan 2022

Mansour Rana, Bsat Yasmin El, Fadel Anthony, El-Orfali Youmna, Noun Dolly, Tarek Nidale, Kabbara Nabil, Abboud Miguel, Massaad Michel J

Abstract excerpt

The interleukin-7 receptor (IL-7R) is expressed on lymphoid cells and plays an important role in the development, homeostasis, survival, and proliferation of T cells. Bi-allelic mutations in the IL-7Rα chain abolish T cell development and function resulting in severe combined immunodeficiency disease. In this manuscript, we investigate a 1 year-old patient born to consanguineous parents, who suffered from...

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Identifiers

PMID: 35418989
DOI: 10.3389/fimmu.2022.867837
PMCID: PMC8996178

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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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