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.

, ,,
Acta Microbiologica et Immunologica Hungarica
Erasmus MC: University Medical Center Rotterdam

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