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MASP2 deficiency
Genetics:
- associated with defects in MASP2
Clinical manifestations:
- autoimmune manifestations
- recurrent severe infections
- chronic inflammatory disease
Related
mannan-binding lectin serine protease 2; MBL-associated serine protease 2; mannose-binding protein-associated serine protease 2; MASP-2; contains: mannan-binding lectin serine protease 2 A chain; mannan-binding lectin serine protease 2 B chain (MASP2)
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 613791
References
OMIM :accession 613791