Рецидивуючі інфекції Neisseria через дефіцит фактора D
ORPHA:169467· ICD-10 D84.1· Recurrent Neisseria infections due to factor D deficiency
Визначення(English summary)
Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.
- Успадкування
- Autosomal recessive