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Susceptibility to infection due to TYK2 deficiency
Disease definition
Susceptibility to infection due to TYK2 deficiency is 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.
ORPHA:331226
Classification level: Disorder- Synonym(s):
- Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: D82.4
- OMIM: 611521
- UMLS: C1969086
- MeSH: -
- GARD: -
- MedDRA: -
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