immunodeficiency 32B

Term ID

DOID:0111985

Synonyms

• autosomal recessive IRF8 deficiency
• IMD32B
• immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive

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. (2)

References

• OMIM:226990
• UMLS_CUI:C4016741

Ontology

Human Disease   ( DOID:0111985 )