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Article

RNA Sequencing Addresses a 5' UTR Variant Leading to X-Linked Agammaglobulinemia and Broader Immune Dysregulation.

Journal of clinical immunology - 13 Dec 2025

Xu Kexin, Zhang Bingqing, Zhao Sen, Zhang Yun, Wu Nan, Shen Min, Zeng Xuejun

Abstract excerpt

PURPOSE: Pathogenic variants in BTK cause X-linked agammaglobulinemia (XLA), yet some cases remain undiagnosed despite extensive genetic testing. Additionally, autoimmune complications have been increasingly reported, but the underlying etiology is still unclear. This study aimed to use RNA sequencing (RNA-seq) to resolve an undiagnosed case and characterize transcriptomic features associated with disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41390883
DOI: 10.1007/s10875-025-01971-2
PMCID: PMC12804217

Genes

BTK
PLVAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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