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.

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Keywords Activation-induced cytidine deaminase gene, Hyper-immunoglobulin M syndrome, Tuberculosis lymphadenitis
Persistent URL dx.doi.org/10.1556/030.62.2015.3.4, hdl.handle.net/1765/85167
Journal Acta Microbiologica et Immunologica Hungarica
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Citation
Patiroglu, T, Akar, H.H, van der Burg, M, & Unal, E. (2015). Autosomal recessive hyper IGM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report. Acta Microbiologica et Immunologica Hungarica, 62(3), 267–274. doi:10.1556/030.62.2015.3.4