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Article

Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family.

Clinical and experimental immunology - 1 Jun 2005

Kaneko H, Kawamoto N, Asano T, Mabuchi Y, Horikoshi H, Teramoto T, Matsui E, Kondo M, Fukao T, Kasahara K, Kondo N

Abstract excerpt

X-linked agammaglobulinaemia (XLA) is an inherited immunodeficiency that is caused by a block in early B-cell differentiation. Whereas early B precursors in the bone marrow are present in substantial numbers, XLA-affected individuals have dramatically reduced numbers of circulating mature B cells, plasma cells and immunoglobulins of all isotypes. We report on a Japanese family with 3 XLA patients, in whom the...

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Source

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Identifiers

PMID: 15932514
DOI: 10.1111/j.1365-2249.2005.02784.x
PMCID: PMC1809400

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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