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