Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Clin Immunol. 2006 Feb-Mar;118(2-3):195-200. Epub 2005 Nov 16.

Genotype/phenotype correlations in X-linked agammaglobulinemia.

Author information

  • 1Department of Immunology, St. Jude Children's Research Hospital, Memphis, USA.

Abstract

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.

PMID:
16297664
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk