Sisters with alpha-mannosidosis and systemic lupus erythematosus.
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.
Urushihara
Maki
M
Department of Paediatrics, School of Medicine, University of Tokushima, Kuramoto-cho 3-chome, 770-8503 Tokushima, Japan. urushi@tokushima-med.jrc.or.jp
Kagami
Shoji
S
Yasutomo
Koji
K
Ito
Michinori
M
Kondo
Shuji
S
Kitamura
Akiko
A
Malm
Dag
D
Klenow
Helle
H
Nilssen
Oivind
O
Kuroda
Yasuhiro
Y
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
D043323:alpha-Mannosidase