Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

Abstract Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface expression of a pre-T cell receptor (TCR) complex, composed of TCRβ chain and pre-TCRα (pTCRα) chain heterodimers, giving rise to a diverse T cell repertoire. Genetic aberrations in key molecules involve...

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Main Authors: Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00453-5
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