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

Author:

Patiroglu Turkan12,Akar H. Haluk1,van der Burg Mirjam3,Unal Ekrem2

Affiliation:

1. 1 Erciyes University School of Medicine, Department of Pediatric Immunology, Kayseri, Turkey

2. 3 Erciyes University School of Medicine, Department of Pediatric Hematology and Oncology, Kayseri, Turkey

3. 2Department of Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands

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.

Publisher

Akademiai Kiado Zrt.

Subject

General Immunology and Microbiology,General Medicine

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