Catalog

Immunodeficiency with CD46 deficiency

No MMS code

Link to WHO Definition

Immunodeficiency with CD46 deficiency – http://id.who.int/icd/entity/2034677150

Deficiency of CD46 is a predisposing factor for numerous disease conditions arising from complement-mediated ‘self-attack’. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial haemolytic uremic syndrome.