Susceptibility to infection due to TYK2 deficiency

Orpha code: 331226OMIM code: 611521

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.

Disease data
Classification

Disease

Synonyms
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
AR-HIES z powodu niedoboru TYK2
Zespół AR-hyper IgE z powodu niedoboru TYK2
ORPHA code
331226
OMIM code
611521
ICD10 code
D82.4
ICD11 code
-

No additional description.

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