Properdin deficiency, X-linked
Properdin deficiency, X-linked
Definition
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.
Also known as properdin deficiency, X-linked, properdin deficiency, X-linked, X-linked recessive — per MONDO