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Сприйнятливість до інфекцій, зумовлена дефіцитом TYK2

ORPHA:331226· ICD-10 D82.4· Susceptibility to infection due to TYK2 deficiency

Визначення(English summary)

A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy