title: Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.
abstract: Familial hemophagocytic lymphohistiocytosis is a rare disorder characterized by lethal primary immunodeficiency associated with hypercytokinemia and a concomitant defect in natural killer cell cytotoxicity. We report a fatal case of familial hemophagocytic lymphohistiocytosis homozygous caused by a novel nonsense mutation of the perforin gene. Homozygosity was established to be the result of uniparental disomy of the maternal chromosome 10. Uniparental disomy increases the risk of autosomal recessive disease.
authors.affiliation: Molecular Hematopathology Laboratory, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Fatma
authors.initials: F
authors.lastname: Al-Jasmi
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abdelhaleem
authors.forename: Tracy
authors.initials: T
authors.lastname: Stockley
authors.forename: Kyong-Soon
authors.initials: KS
authors.lastname: Lee
authors.forename: Joe T R
authors.initials: JT
authors.lastname: Clarke
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D009035:Mothers; D010375:Pedigree; D054353:Perforin / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D054353:Perforin