| 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 | |
| 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 |