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Eur J Pediatr. 2004 Apr;163(4-5):192-5. Epub 2004 Feb 4.

Sisters with alpha-mannosidosis and systemic lupus erythematosus.

Author information

1
Department of Paediatrics, School of Medicine, University of Tokushima, Kuramoto-cho 3-chome, 770-8503 Tokushima, Japan. urushi@tokushima-med.jrc.or.jp

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.

CONCLUSION:

alpha-mannnosidosis may contribute to the onset of systemic lupus erythematosus in predisposed patients.

PMID:
14760529
DOI:
10.1007/s00431-004-1404-2
[Indexed for MEDLINE]
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