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Article

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.

Journal of clinical immunology - 8 Apr 2024

Mackeh Rafah, El Bsat Yasmin, Elmi Asha, Bibawi Hani, Karim Mohammed Yousuf, Hassan Amel, Lo Bernice

Abstract excerpt

PURPOSE: The interleukin-7 receptor (IL-7R) is primarily expressed on lymphoid cells and plays a crucial role in the development, proliferation, and survival of T cells. Autosomal recessive mutations that disrupt IL-7Rα chain expression give rise to a severe combined immunodeficiency (SCID), which is characterized by lymphopenia and a T-B+NK+ phenotype. The objective here was to diagnose two siblings displaying...

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Identifiers

PMID: 38587703
DOI: 10.1007/s10875-024-01688-8
PMCID: PMC11001715

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