Table 1.
Mutations in IRFs and STATs, functional impact, and associated PID/infectious phenotype.
| Gene | Inheritance | Allele | PID and infectious phenotype |
|---|---|---|---|
| IRF3 | AD/IP | LOF | Herpes simplex encephalitis (HSE) |
| IRF7 | AR | LOF | Severe influenza |
| IRF8 | AR | LOF | Mendelian susceptibility to mycobacterial infection (MSMD) |
| IRF9 | AR | LOF | Severe influenza |
| STAT1 | AD/AR | LOF | MSMD, HSE, fungi |
| STAT1 | AD | GOF | Chronic mucocutaneous candidiasis (CMC), progressive multifocal leukoencephalopathy (PML)/JC virus |
| STAT3 | AD | LOF | Hyper-IgE syndrome (HIES), Staphylococcus aureus, Candida albicans, aspergillus, EBV |
| STAT3 | AD | GOF | Autoinflammation, hypogammaglobulinemia |
| STAT5B | AD | LOF | Growth hormone insensitivity syndrome (GHIS) with a broad infectious phenotype |
IRF, interferon (IFN) regulatory factor; STAT, signal transducer and activator of transcription; AD, autosomal dominant, AR, autosomal recessive; LOF, loss-of-function; GOF, gain-of-function.