Term Name: | type I complement component 8 deficiency |
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Synonyms: | |
Definition: | A complement deficiency that is characterized by deficiency of the alpha 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 C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. |
Ontology: | Human Disease [DOID:0060301] ( DOID:0060301 ) |