title: Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
abstract: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation. Mutations in the gene encoding perforin were previously identified in a subset of FHL patients. The present analysis of two novel candidate genes, granzyme B and granulysin, by direct sequencing in a total of 16 FHL families, disclosed several sequence variations. However, none of these sequence variations were associated with the manifestations of FHL. These data do not support the notion that granulysin and granzyme B are candidate genes for FHL.
authors.affiliation: Childhood Cancer Research Unit, Department of Woman and Child Health, Karoliniska Institutet, Stockholm, Sweden. Kim.Ericson@cmm.ki.se
authors.forename: Kim Göransdotter
authors.initials: KG
authors.lastname: Ericson
authors.forename: Bengt
authors.initials: B
authors.lastname: Fadeel
authors.forename: Mats
authors.initials: M
authors.lastname: Andersson
authors.forename: Gudmundur H
authors.initials: GH
authors.lastname: Gudmundsson
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gürgey
authors.forename: Nevin
authors.initials: N
authors.lastname: Yalman
authors.forename: Gritta
authors.initials: G
authors.lastname: Janka
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
mesh_terms: D019943:Amino Acid Substitution; D000945:Antigens, Differentiation, T-Lymphocyte / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D005260:Female; D014644:Genetic Variation; D053804:Granzymes; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D006801:Humans; D008264:Macrophages / Q000276:immunology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D054353:Perforin; D011110:Polymorphism, Genetic; D052899:Pore Forming Cytotoxic Proteins; D017422:Sequence Analysis, DNA; D012697:Serine Endopeptidases / Q000737:chemistry / Q000235:genetics*
chemical_list: D000945:Antigens, Differentiation, T-Lymphocyte; C075005:GNLY protein, human; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin; C509213:GZMB protein, human; D053804:Granzymes; D012697:Serine Endopeptidases