Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Clin Diagn Lab Immunol. 1998 May;5(3):415-7. doi: 10.1128/CDLI.5.3.415-417.1998.

Abstract

We wished to determine the prevalence of immunoglobulin A (IgA) deficiency in patients with the chromosome 22q11.2 deletion syndrome. A total of 32 patients with the chromosome 22q11.2 deletion were examined for IgA deficiency. We report a 13% (n = 4) prevalence of IgA deficiency in patients with this syndrome. The odds ratio of IgA deficiency in this population is 14.20 (P < 0.0001). This confirms the occurrence of significant humoral deficits in this predominantly cellular immunodeficiency.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / immunology*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Cross-Sectional Studies
  • DiGeorge Syndrome / genetics
  • DiGeorge Syndrome / immunology*
  • Female
  • Genetic Testing
  • Humans
  • IgA Deficiency / epidemiology*
  • Immunoglobulin A / blood
  • In Situ Hybridization, Fluorescence
  • Male
  • Odds Ratio
  • Prevalence

Substances

  • Immunoglobulin A