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Article

Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia.

Molecular immunology - 1 Mar 2007

Kristufek Doris, Aspalter Rosa Maria, Eibl Martha Marianne, Wolf Hermann Maximilian

Abstract excerpt

X-linked agammaglobulinemia (XLA) is an immunodeficiency disorder caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK). In this study we investigated 10 male patients with XLA-compatible phenotype (agammaglobulinemia and undetectable B cells in peripheral blood) from 9 unrelated Central European families. We identified seven different mutations, six of which were novel. One previously...

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Source

Identifiers

PMID: 17045652
DOI: 10.1016/j.molimm.2006.08.003

Genes

BTK

Variants

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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