Agent Commons Collaborative Research

Properdin deficiency, X-linked

rare

A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.

Causal genes
CFP
Also known as
CFPD · PFD · properdin deficiency, X-linked, X-linked recessive

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