Chediak-Higashi Syndrome

Karal Z., KILIÇ GÜLTEKİN S. Ş.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, cilt.5, sa.3, ss.99-104, 2007 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 5 Sayı: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1038/sj.bmt.1705600
  • Dergi Adı: GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.99-104
  • Anahtar Kelimeler: Chediak-Higashi syndrome, hipopigmentation, immunodeficiency
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder that affects multiple systems of the body. Mutations have been found in the CHS1 gene. This disorder characterized by hypopigmentation of the skin and hair; prolonged bleeding time; immunodeficiency; recurrent infections; neurologic abnormalites. Abnormally large granules are seen in peripheral leukocytes and many other cell types.