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Article

Recent progress in the diagnosis and treatment of patients with defects in early B-cell development.

Current opinion in pediatrics - 1 Dec 1999

Minegishi Y, Rohrer J, Conley M E

Abstract excerpt

Mutation detection for X-linked agammaglobulinemia (XLA) has revealed the heterogeneity of the clinical phenotype of patients with defects in Bruton's tyrosine kinase (Btk), the gene that is abnormal in XLA. Over 50% of patients with mutations in Btk have no family history of the disease because their cases are the first manifestation of a new mutation in their family. In 10% to 20% of patients, the serum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10590911
DOI: 10.1097/00008480-199912000-00010

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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