Metadata | |
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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 | |
Synonyms |
autosomal recessive IRF8 deficiency [EXACT] IMD32B [EXACT] immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |