Immune manifestations in a patient with kabuki syndrome: Case report

Kiliç M., Güner Ş. N., Yılmaz A., Oǧur M. G., Duru F., Yıldıran A.

Turkiye Klinikleri Pediatri, cilt.21, sa.2, ss.130-132, 2012 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 2
  • Basım Tarihi: 2012
  • Dergi Adı: Turkiye Klinikleri Pediatri
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.130-132
  • Anahtar Kelimeler: Apoptosis, Autoimmunity, Congenital abnormalities
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Kabuki Syndrome (KS) is a very rare congenital disorder associated with multiple organ system involvement. Some recent studies suggest that KS is also associated with immune abnormalities and autoimmunity. However, the frequency and severity of the immune deficiency has not been clearly defined. We report a 6-year-old girl with the clinical features compatible with KS who suffered from recurrent infectious diseases such as meningitis, sepsis and skin abscesses. She had hepatosplenomegaly, thrombocytopenia, neutropenia, elevated serum IgM, IgA and IgG levels, positive direct Coombs test and mildly elevated double negative T cells (2.9%). The children with KS should be evaluated thoroughly at the time of diagnosis to reduce preventable morbidity and mortality. Copyright © 2012 by Türkiye Klinikleri.