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Article

Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain.

Immunogenetics - 1 Apr 2023

Waheed Nadia, Naseer Maryam, Haider Nighat, Suleman Sufyan, Ullah Asmat

Abstract excerpt

Interleukin 2 receptor alpha chain (IL-2Rα or CD25) deficiency (OMIM #606367) is an immune dysregulation disorder segregating in autosomal recessive form. The disease is caused by biallelic variants in the IL-2Rα gene encoding IL-2Rα also known as CD25 protein. IL-2Rα combines with γ and β chains of interleukin 2 receptor to form a functional interleukin 2 receptor (IL-2R). In the present study, we identified a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36195682
DOI: 10.1007/s00251-022-01278-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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