Alt. symbols: ICSBP1 | IRF-8 | ICSBP

Approved name: interferon regulatory factor 8
Alt. names: interferon consensus sequence binding protein 1

Location: 16q24.1: 85899116 - 85922606 (+)
Gene type: protein_coding, 18 transcripts.

Scores: LoFtool: 0.174000 | pLI: 0.92654024 | LOEUF: 0.344

HGNC: 5358

NCBI: 3394, RefSeq: NG_029333.1

Ensembl: ENSG00000140968.12

LRG_294 | Status: public

OMIM: 601565

Expression | ProteinAtlas

Immunodeficiency 32A, mycobacteriosis, autosomal dominant [MIM:614893] | Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive [MIM:226990]. Monoallelic or biallelic mutations in IRF8 have been shown to cause respectively autosomal dominant (Immunodeficiency 32A, mycobacteriosis, autosomal dominant OMIM: 614893) or autosomal recessive (Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive OMIM: 226990) immunodeficiency. Autosomal dominant I RF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340) dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011). Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017). [Load More]