type I complement component 8 deficiency

Term ID

DOID:0060301

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

References

• ICD10CM:D84.1
• OMIM:613790
• ORDO:169150

Ontology

Human Disease   ( DOID:0060301 )