Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan

Clin Immunol. 2019 Jan:198:100-101. doi: 10.1016/j.clim.2018.07.016. Epub 2018 Jul 29.

Abstract

Autosomal Recessive Agammaglobulinemia (ARA) is an uncommon type of primary immunodeficiency characterized by mutations in genes responsible for early B cell differentiation and function. One such gene is the TCF3 gene, which encodes a transcription factor important for immunoglobulin gene expression. We present the case of a 9 year old girl with history of diarrhea and recurrent pneumonias. Laboratory investigation showed significantly reduced levels of immunoglobulins along with a significant fall in the number of CD19+ cells. Genetic analysis identified a TCF3 gene base deletion covering exons 5-11.

Keywords: Autosomal Recessive Agammaglobulinemia; Primary immunodeficiency; TCF3 gene.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agammaglobulinemia / genetics*
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Child
  • Female
  • Humans
  • Mutation*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • TCF3 protein, human

Supplementary concepts

  • Agammaglobulinemia, non-Bruton type