Дефіцит пропердину
ORPHA:2966· ICD-10 D84.1· Properdin deficiency
Визначення(English summary)
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.
- Успадкування
- X-linked recessive