IRF8 (Interferon regulatory factor 8) variants and mutations

IRF8 (also known as Interferon regulatory factor 8) is a human protein-coding gene encoding an interferon regulatory factor 8 protein. It directs development and antimicrobial programs of monocytes, dendritic cells, and other myeloid populations and cooperates with interferon signaling. Pathogenic variants can cause immunodeficiency with abnormal monocyte or dendritic-cell development and susceptibility to mycobacterial infection. This analysis covers 746 IRF8 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes immunodeficiency 32B, B-cell chronic lymphocytic leukemia, and lymphoid leukemia. Example IRF8 variants include C2R, C2Y, and C2C.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable IRF8 variants

Examples include C2R, C2Y, C2C, D3E, D3D, R4Q, R4W, R4G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.