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Article

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

Medicine - 1 Aug 2016

Chen Xia-Fang, Wang Wei-Fan, Zhang Yi-Dan, Zhao Wei, Wu Jing, Chen Tong-Xin

Abstract excerpt

X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship between specific BTK gene...

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Source

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Identifiers

PMID: 27512878
DOI: 10.1097/MD.0000000000004544
PMCID: PMC4985333

Genes

BTK

Provenance

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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