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Article

Discordant phenotype in siblings with X-linked agammaglobulinemia.

American journal of human genetics - 1 Mar 1996

Bykowsky M J, Haire R N, Ohta Y, Tang H, Sung S S, Veksler E S, Greene J M, Fu S M, Litman G W, Sullivan K E

Abstract excerpt

X-linked agammaglobulinemia (XLA) is a congenital humoral immunodeficiency caused by a defect in a B-cell-specific signaling molecule, Btk. There has been little concordance of phenotype with genotype in this disorder, and defects in Btk cause immunodeficiencies that range from mild impairment to complete inability to produce antibodies. The factors modifying the phenotype of XLA are not understood. The current...

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Identifiers

PMID: 8644706
PMCID: PMC1914566

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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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