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properdin deficiency, X-linked

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Properdin deficiency is 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.
Uniprot Description Results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III).
Mondo Term and Equivalent IDs
MONDO:0010713:  properdin deficiency, X-linked
DOID:0111768: 
GARD:0004513: 
GARD:0009913: 
MESH:C537241: 
Orphanet:2966: 
SCTID:81166004: