GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, vol.5, no.3, pp.99-104, 2007 (Peer-Reviewed Journal)
Article / Review
GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
Emerging Sources Citation Index
Chediak-Higashi syndrome, hipopigmentation, immunodeficiency
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.