Version: 8.0.0
Date: Tue Jan 28 2025
type II complement component 8 deficiency
DOID:0060302
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

type II complement component 8 deficiency

Definition
A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.
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