MASP2 deficiency

Genetics

• associated with defects in MASP2

Clinical manifestations

• autoimmune manifestations
• recurrent severe infections
• chronic inflammatory disease

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/613791