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- Title
Sisters with α-mannosidosis and systemic lupus erythematosus.
- Authors
Urushihara, Maki; Kagami, Shoji; Yasutomo, Koji; Ito, Michinori; Kondo, Shuji; Kitamura, Akiko; Malm, Dag; Klenow, Helle; Nilssen, Oivind; Kuroda, Yasuhiro
- Abstract
Alpha-mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal α-mannosidase (LAMAN). Here, we report two sisters with α-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 α-mannosidosis and SLE are discussed with regard to both clinical and molecular findings. Conclusion:α-mannnosidosis may contribute to the onset of systemic lupus erythematosus in predisposed patients.
- Subjects
MANNOSIDASES; LYSOSOMAL storage diseases; SISTERS; CUTANEOUS tuberculosis; LUPUS erythematosus; RENAL biopsy; DISEASES
- Publication
European Journal of Pediatrics, 2004, Vol 163, Issue 4/5, p192
- ISSN
0340-6199
- Publication type
Article
- DOI
10.1007/s00431-004-1404-2