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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