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GTR Home > Conditions/Phenotypes > Properdin deficiency, X-linked

Properdin deficiency, X-linked

Synonyms
COMPLEMENT FACTOR PROPERDIN DEFICIENCY; PROPERDIN DEFICIENCY, TYPE I; Properdin P factor deficiency; Properdin deficiency, type 1
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001). [from OMIM]

Available tests

20 tests are in the database for this condition.

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Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BFD, PFC, PFD, PROPERDIN, CFP
    Summary: complement factor properdin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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