Genotype/phenotype correlations in X-linked agammaglobulinemia

Arnon Broides, Wenjian Yang, Mary Ellen Conley

Research output: Contribution to journalArticlepeer-review

73 Scopus citations


No clear genotype/phenotype correlations have been established in patients with X-linked agammaglobulinemia (XLA). To determine if the specific mutation in Btk might be one of the factors that influences the severity of disease or if polymorphic variants in Tec, a cytoplasmic tyrosine kinase that might substitute for Btk, could contribute to the clinical phenotype, we examined the age at diagnosis, the percentage of peripheral blood B cells and the plasma IgM in a large group of patients with XLA. The results demonstrated that polymorphic variants in Tec were not correlated with phenotypic markers; however, the specific mutation in Btk did influence disease severity. Mutations that conceivably allow the production of some Btk, amino acid substitutions or splice defects that occur at conserved but not invariant sites in the splice consensus sequence were associated with older age at diagnosis, a higher percentage of B cells in the peripheral circulation and higher concentrations of plasma IgM.

Original languageEnglish
Pages (from-to)195-200
Number of pages6
JournalClinical Immunology
Issue number2-3
StatePublished - 1 Feb 2006
Externally publishedYes


  • B cells
  • Btk
  • Hypogammaglobulinemia
  • IgM
  • Immunodeficiency
  • Prognosis
  • Splice site
  • Tec

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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