Related Experiment Videos
Sisters with alpha-mannosidosis and systemic lupus erythematosus
Maki Urushihara1, Shoji Kagami, Koji Yasutomo
1Department of Paediatrics, School of Medicine, University of Tokushima, Kuramoto-cho 3-chome, 770-8503 Tokushima, Japan. urushi@tokushima-med.jrc.or.jp
Unlabelled:
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.
Conclusion:
alpha-mannnosidosis may contribute to the onset of systemic lupus erythematosus in predisposed patients.