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

T Patiroglu, HH Akar, Mirjam van der Burg, E Unal

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3 Citations (Scopus)

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.
Original languageUndefined/Unknown
Pages (from-to)267-274
Number of pages8
JournalActa Microbiologica en Immunologica Hungarica
Volume62
Issue number3
DOIs
Publication statusPublished - 2015

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