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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