Term Name: | type II complement component 8 deficiency |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060302] ( DOID:0060302 ) |