AUTOSOMAL RECESSIVE HYPER IgM SYNDROME ASSOCIATED WITH ACTIVATION-INDUCED CYTIDINE DEAMINASE GENE IN THREE TURKISH SIBLINGS PRESENTED WITH TUBERCULOSIS LYMPHADENITIS - CASE REPORT


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PATIROĞLU T. , AKAR H. H. , VAN DER BURG M., ÜNAL E.

ACTA MICROBIOLOGICA ET IMMUNOLOGICA HUNGARICA, vol.62, no.3, pp.267-274, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 3
  • Publication Date: 2015
  • Doi Number: 10.1556/030.62.2015.3.4
  • Title of Journal : ACTA MICROBIOLOGICA ET IMMUNOLOGICA HUNGARICA
  • Page Numbers: pp.267-274

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.