type II complement component 8 deficiency

Term ID

DOID:0060302

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. https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency

References

• ICD10CM:D84.1
• OMIM:613789
• ORDO:169150

Ontology

Human Disease   ( DOID:0060302 )