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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00187 | Mannan-binding lectin serine protease 2 | |
| O75636 | Ficolin-3 | |
| P08174 | Complement decay-accelerating factor | |
| P12821 | Angiotensin-converting enzyme | |
| P27797 | Calreticulin |
