FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 32A ID (Ontology) DOID:0111986 (Human Disease)
Definition A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
Also Known As "IMD32A" ; "immunodeficiency 32A, mycobacteriosis, autosomal dominant" ; "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal dominant disease____
primary immunodeficiency disease  |
 |__dendritic cell deficiency_____|
                                  immunodeficiency 32A
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Is a autosomal dominant disease
dendritic cell deficiency
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Synonyms
  • "IMD32A" EXACT OMO:0003012
    "immunodeficiency 32A, mycobacteriosis, autosomal dominant" EXACT
    "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT
    "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" EXACT
    "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT
    "MSMD due to partial IRF8 deficiency" EXACT
Secondary IDs
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MIM:614893
ORDO:319600
UMLS_CUI:C3808589