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Metadata
ID DOID:0111985
Name immunodeficiency 32B
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.
https://pubmed.ncbi.nlm.nih.gov/6279813/, https://pubmed.ncbi.nlm.nih.gov/27893462/
Xrefs

MIM:226990

UMLS_CUI:C4016741

Synonyms

autosomal recessive IRF8 deficiency [EXACT]

IMD32B [EXACT]

immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive [EXACT]

Parent Relationships

is_a monocyte, dendritic cell, and NK cell deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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