Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report

Acta Microbiol Immunol Hung. 2015 Sep;62(3):267-74. doi: 10.1556/030.62.2015.3.4.

Abstract

The hyper-immunoglobulin M (HIGM) syndrome is a heterogeneous group of genetic disorders characterized by recurrent infections, decreased serum levels of immunoglobulin G (IgG) and IgA, and normal/increased serum levels of IgM. Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C>T, p.Arg24Trp) in the activation-induced cytidine deaminase gene which results in autosomal recessive HIGM syndrome. Two of the siblings, sibling 1 and sibling 3, presented with cervical deep abscess and cervical tuberculosis lymphadenitis, respectively.

Keywords: activation-induced cytidine deaminase gene; hyper-immunoglobulin M syndrome; tuberculosis lymphadenitis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Cytidine Deaminase / genetics*
  • Cytidine Deaminase / metabolism
  • Female
  • Genes, Recessive
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome / blood
  • Hyper-IgM Immunodeficiency Syndrome / complications
  • Hyper-IgM Immunodeficiency Syndrome / enzymology*
  • Hyper-IgM Immunodeficiency Syndrome / genetics
  • Immunoglobulin A / blood
  • Immunoglobulin G / blood
  • Immunoglobulin M / blood
  • Lymphadenitis / blood
  • Lymphadenitis / etiology*
  • Male
  • Mutation, Missense
  • Siblings
  • Tuberculosis / blood
  • Tuberculosis / etiology*
  • Turkey

Substances

  • Immunoglobulin A
  • Immunoglobulin G
  • Immunoglobulin M
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase