immunodeficiency 35

Term ID

DOID:0111989

Synonyms

• autosomal recessiv HIES with atypical mycobacteriosis
• autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis
• IMD35
• susceptibility to infection due to TYK2 deficiency
• TYK2 deficiency
• tyrosine kinase 2 deficiency

Definition

A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/26304966/

References

• MESH:C566928
• OMIM:611521
• ORDO:331226

Ontology

Human Disease   ( DOID:0111989 )