Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation

J Clin Immunol. 2014 May;34(4):425-7. doi: 10.1007/s10875-014-0033-4. Epub 2014 Apr 11.

Abstract

This study describes the third case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in Igβ presenting with neutropenia, ecthyma and mild respiratory infections.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agammaglobulinemia / diagnosis
  • Agammaglobulinemia / genetics*
  • Agammaglobulinemia / immunology
  • Agammaglobulinemia / pathology
  • Base Sequence
  • Codon, Nonsense*
  • Consanguinity
  • Ecthyma / immunology
  • Ecthyma / pathology
  • Female
  • Homozygote
  • Humans
  • Immunoglobulins / deficiency
  • Immunoglobulins / genetics*
  • Immunoglobulins / immunology
  • Infant
  • Molecular Sequence Data
  • Neutropenia / immunology
  • Neutropenia / pathology
  • Pedigree
  • Respiratory Tract Infections / immunology
  • Respiratory Tract Infections / pathology

Substances

  • Codon, Nonsense
  • Immunoglobulins
  • immunoglobulin B

Supplementary concepts

  • Agammaglobulinemia, non-Bruton type