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

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

Author information

1
Erciyes University School of Medicine , Department of Pediatric Immunology, Kayseri , Turkey.
2
Erciyes University School of Medicine , Department of Pediatric Hematology and Oncology, Kayseri , Turkey.
3
Department 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.

KEYWORDS:

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

PMID:
26551569
DOI:
10.1556/030.62.2015.3.4
[Indexed for MEDLINE]

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