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Article

BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.

Human mutation - 1 Mar 2004

Fiorini Maurilia, Franceschini Roberta, Soresina Annarosa, Schumacher Richard-Fabian, Ugazio Alberto G, Rossi Paolo, Plebani Alessandro, Notarangelo Luigi D

Abstract excerpt

X linked agammaglobulinemia (XLA) is an immunodeficiency disease caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK), that is involved in signal transduction pathways regulating survival, activation, proliferation, and differentiation of B lineage lymphoid cells. XLA is a primary immunodeficiency disorder characterized by lack of mature, circulating B lymphocytes, and...

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Source

Identifiers

PMID: 14974089
DOI: 10.1002/humu.9219

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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