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