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Article

XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.

Journal of clinical immunology - 1 Sept 2002

Noordzij Jeroen G, de Bruin-Versteeg Sandra, Hartwig Nico G, Weemaes Corry M R, Gerritsen Egbert J A, Bernatowska Eva, van Lierde Stefaan, de Groot Ronald, van Dongen Jacques J M

Abstract excerpt

X-linked agammaglobulinemia is caused by mutations in the BTK gene, which result in a precursor B-cell differentiation arrest in the bone marrow and the absence of or strongly reduced B lymphocytes in blood. We identified a patient with a mild clinical phenotype, low numbers of B lymphocytes, and a splice-site mutation in the BTK gene. The precursor B-cell compartment in the bone marrow of this patient was almost...

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Share to Agammaglobulinaemia Tyrosine Kinase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12405164
DOI: 10.1023/a:1019982206951

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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