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type II complement component 8 deficiency
Summary
- 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.
- Super Class
- complement deficiency
External Links
- Disease Ontology
- DOID:0060302
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
