Immunodeficiency with CD46 deficiency (Q51693)
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2034677150 |
||
| English | Immunodeficiency with CD46 deficiency |
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. |
Statements
CID11:ID_2034677150
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