FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 31B ID (Ontology) DOID:0111944 (Human Disease)
Definition A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
Also Known As "autosomal recessive immunodeficiency 31B, mycobacterial and viral infections" ; "autosomal recessive STAT1 deficiency" ; "IMD31B" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 31B       1
 for disease ribbon | immunodeficiency 31B       1
 model of | immunodeficiency 31B       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 31B  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "autosomal recessive immunodeficiency 31B, mycobacterial and viral infections" EXACT
    "autosomal recessive STAT1 deficiency" EXACT
    "IMD31B" EXACT OMO:0003012
    "predisposition to severe viral infection due to STAT1 deficiency" EXACT
    "susceptibility to viral and mycobacterial infections due to STAT1 deficiency" EXACT
Secondary IDs
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MIM:613796
ORDO:391311