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type I complement component 8 deficiency
Summary
- 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.
- Super Class
- complement deficiency
External Links
- Disease Ontology
- DOID:0060301
- Mondo Disease Ontology
- ORDO
- OMIM
