title: Sisters with alpha-mannosidosis and systemic lupus erythematosus.
abstract: Alpha-mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). Here, we report two sisters with alpha-mannosidosis who developed systemic lupus erythematosus (SLE). The sisters were both homozygous for a one bp deletion within the LAMAN gene resulting in a truncated gene product. The coincidence of alpha-mannosidosis and SLE are discussed with regard to both clinical and molecular findings.
  
  
  CONCLUSIONS
  alpha-mannnosidosis may contribute to the onset of systemic lupus erythematosus in predisposed patients.
authors.affiliation: Department of Paediatrics, School of Medicine, University of Tokushima, Kuramoto-cho 3-chome, 770-8503 Tokushima, Japan. urushi@tokushima-med.jrc.or.jp
authors.forename: Maki
authors.initials: M
authors.lastname: Urushihara
authors.forename: Shoji
authors.initials: S
authors.lastname: Kagami
authors.forename: Koji
authors.initials: K
authors.lastname: Yasutomo
authors.forename: Michinori
authors.initials: M
authors.lastname: Ito
authors.forename: Shuji
authors.initials: S
authors.lastname: Kondo
authors.forename: Akiko
authors.initials: A
authors.lastname: Kitamura
authors.forename: Dag
authors.initials: D
authors.lastname: Malm
authors.forename: Helle
authors.initials: H
authors.lastname: Klenow
authors.forename: Oivind
authors.initials: O
authors.lastname: Nilssen
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000235:genetics; D009154:Mutation; D017384:Sequence Deletion; D035781:Siblings; D043323:alpha-Mannosidase / Q000235:genetics; D008363:alpha-Mannosidosis / Q000150:complications* / Q000235:genetics
chemical_list: D043323:alpha-Mannosidase