Chediak-Higashi Syndrome


Karal Z., KILIÇ GÜLTEKİN S. Ş.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, vol.5, no.3, pp.99-104, 2007 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 5 Issue: 3
  • Publication Date: 2007
  • Doi Number: 10.1038/sj.bmt.1705600
  • Journal Name: GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
  • Journal Indexes: Emerging Sources Citation Index
  • Page Numbers: pp.99-104
  • Keywords: Chediak-Higashi syndrome, hipopigmentation, immunodeficiency

Abstract

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.