Journal
PEDIATRIC BLOOD & CANCER
Volume 56, Issue 7, Pages 1136-1139Publisher
WILEY
DOI: 10.1002/pbc.22878
Keywords
Chediak Higashi syndrome; LYST gene; point mutation
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Funding
- German Federal Ministry of Education and Research (BMBF) [01 EO 0803]
- European Union [201461]
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Chediak Higashi syndrome (CHS) is an autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black hair and skin and developed HLH at the age of 4 years. Pediatr Blood Cancer 2011;56:1136-1139. (C) 2011 Wiley-Liss, Inc.
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