title: A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene.
abstract: A heterozygous mutation in the Langerin gene corresponding to position 837 in the Langerin mRNA was identified in a person deficient in Birbeck granules (BG). This mutation results in an amino acid replacement of tryptophan by arginine at position 264 in the carbohydrate recognition domain of the Langerine protein. Expression of mutated Langerin in human fibroblasts induces tubular-like structures that are negative for BG-specific antibodies and do not resemble the characteristic structural features of BG.
authors.affiliation: Department of Dermatology, Leiden University Mediacl Center, Wassenaarseweg 72, 2333, AL Leiden, The Netherlands.
authors.forename: Pauline
authors.initials: P
authors.lastname: Verdijk
authors.forename: Remco
authors.initials: R
authors.lastname: Dijkman
authors.forename: Elsemieke I
authors.initials: EI
authors.lastname: Plasmeijer
authors.forename: Aat A
authors.initials: AA
authors.lastname: Mulder
authors.forename: Willem H
authors.initials: WH
authors.lastname: Zoutman
authors.forename: A
authors.initials: A
authors.lastname: Mieke Mommaas
authors.forename: Cornelis P
authors.initials: CP
authors.lastname: Tensen
mesh_terms: D000595:Amino Acid Sequence; D015703:Antigens, CD; D000954:Antigens, Surface / Q000235:genetics*; D002478:Cells, Cultured; D003594:Cytoplasmic Granules / Q000473:pathology* / Q000648:ultrastructure; D018076:DNA, Complementary; D005347:Fibroblasts / Q000166:cytology / Q000502:physiology; D049452:Green Fluorescent Proteins / Q000235:genetics; D006801:Humans; D007801:Langerhans Cells / Q000473:pathology* / Q000502:physiology* / Q000648:ultrastructure; D037181:Lectins, C-Type / Q000235:genetics*; D037241:Mannose-Binding Lectins / Q000235:genetics*; D016253:Microscopy, Immunoelectron; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D015703:Antigens, CD; D000954:Antigens, Surface; C121916:CD207 protein, human; D018076:DNA, Complementary; D037181:Lectins, C-Type; D037241:Mannose-Binding Lectins; D049452:Green Fluorescent Proteins