FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 35 ID (Ontology) DOID:0111989 (Human Disease)
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.
Also Known As "autosomal recessiv HIES with atypical mycobacteriosis" ; "autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis" ; "IMD35" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 35       1
 for disease ribbon | immunodeficiency 35       1
 model of | immunodeficiency 35       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 35  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "autosomal recessiv HIES with atypical mycobacteriosis" EXACT
    "autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis" EXACT
    "IMD35" EXACT OMO:0003012
    "susceptibility to infection due to TYK2 deficiency" EXACT
    "TYK2 deficiency" EXACT
    "tyrosine kinase 2 deficiency" EXACT
Secondary IDs
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MESH:C566928
MIM:611521
ORDO:331226