FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 31A ID (Ontology) DOID:0111945 (Human Disease)
Definition A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2.
Also Known As "autosomal dominant immunodeficiency 31A, mycobacteriosis" ; "IMD31A" ; "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 31A       1
 for disease ribbon | immunodeficiency 31A       1
 model of | immunodeficiency 31A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease________
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 31A  1 rec.
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Is a autosomal dominant disease
primary immunodeficiency disease
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Synonyms
  • "autosomal dominant immunodeficiency 31A, mycobacteriosis" EXACT
    "IMD31A" EXACT OMO:0003012
    "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT
    "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" EXACT
    "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT
    "MSMD due to partial STAT1 deficiency" EXACT
Secondary IDs
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MIM:614892
ORDO:319595