| Metadata | |
|---|---|
| ID | DOID:0111989 |
| Name | immunodeficiency 35 |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessiv HIES with atypical mycobacteriosis [EXACT] autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis [EXACT] IMD35 [EXACT] susceptibility to infection due to TYK2 deficiency [EXACT] TYK2 deficiency [EXACT] tyrosine kinase 2 deficiency [EXACT] |
| Parent Relationships |