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X-linked properdin deficiency
Summary
- Synonym
-
- CFPD
- complement factor properdin deficiency
- Definition
- A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.
- Super Class
- X-linked recessive disease complement deficiency
External Links
- Disease Ontology
- DOID:0111768
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
