title: A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.
abstract: 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.
authors.affiliation: Pediatric Hematology Unit of the Department of Pediatrics, Medical School of Gazi University, Ankara, Turkey. zuhrekaya@gazi.edu.tr
authors.forename: Zuhre
authors.initials: Z
authors.lastname: Kaya
authors.forename: Stephan
authors.initials: S
authors.lastname: Ehl
authors.forename: Meryem
authors.initials: M
authors.lastname: Albayrak
authors.forename: Andrea
authors.initials: A
authors.lastname: Maul-Pavicic
authors.forename: Klaus
authors.initials: K
authors.lastname: Schwarz
authors.forename: Ulker
authors.initials: U
authors.lastname: Kocak
authors.forename: Mehmet Ali
authors.initials: MA
authors.lastname: Ergun
authors.forename: Turkiz
authors.initials: T
authors.lastname: Gursel
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007694:Killer Cells, Natural / Q000473:pathology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000209:etiology*; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D035781:Siblings; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C102161:LYST protein, human; D033921:Vesicular Transport Proteins