FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 32B ID (Ontology) DOID:0111985 (Human Disease)
Definition A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
Also Known As "autosomal recessive IRF8 deficiency" ; "IMD32B" ; "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive"
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autosomal genetic disease
 |__autosomal recessive disease_______________________
combined immunodeficiency                             |
 |__monocyte, dendritic cell, and NK cell deficiency__|
                                                      immunodeficiency 32B
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Is a autosomal recessive disease
monocyte, dendritic cell, and NK cell deficiency
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Synonyms
  • "autosomal recessive IRF8 deficiency" EXACT
    "IMD32B" EXACT OMO:0003012
    "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive" EXACT
Secondary IDs
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MIM:226990
UMLS_CUI:C4016741