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 language | Undefined/Unknown |
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Pages (from-to) | 267-274 |
Number of pages | 8 |
Journal | Acta Microbiologica en Immunologica Hungarica |
Volume | 62 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2015 |
Research programs
- EMC MM-02-72-01
- EMC MM-02-72-03