AUTOSOMAL RECESSIVE HYPER IgM SYNDROME ASSOCIATED WITH ACTIVATION-INDUCED CYTIDINE DEAMINASE GENE IN THREE TURKISH SIBLINGS PRESENTED WITH TUBERCULOSIS LYMPHADENITIS - CASE REPORT

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PATIROĞLU T., AKAR H. H., VAN DER BURG M., ÜNAL E.

ACTA MICROBIOLOGICA ET IMMUNOLOGICA HUNGARICA, cilt.62, sa.3, ss.267-274, 2015 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1556/030.62.2015.3.4
  • Dergi Adı: ACTA MICROBIOLOGICA ET IMMUNOLOGICA HUNGARICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.267-274
  • Anahtar Kelimeler: hyper-immunoglobulin M syndrome, activation-induced cytidine deaminase gene, tuberculosis lymphadenitis
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.