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
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
811 CALR calreticulin
1604 CD55 CD55 molecule (Cromer blood group)
1636 ACE angiotensin I converting enzyme
8547 FCN3 ficolin 3
10747 MASP2 MBL associated serine protease 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024