Table 1.
A list of the currently known 15 genes reported to be associated with Mendelian susceptibility to mycobacterial diseases.
| Gene symbol | Protein | Mode of inheritance | Defect |
|---|---|---|---|
| IL12B | Interleukin 12B | AR | Complete deficiency with no mutant protein expression |
| IL12RB1 | Interleukin 12 receptor, beta 1 | AR | Complete deficiency with mutant protein expression |
| AR | Complete deficiency with no mutant protein expression | ||
| IKBKG | Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | XR | Partial deficiency with mutant protein expression |
| IFNGR1 | Interferon gamma receptor 1 | AR | Complete deficiency and protein expressed |
| AR | Complete deficiency and no protein expression | ||
| AD | Partial deficiency and increased protein expression | ||
| AR | Partial deficiency and protein expression | ||
| IFNGR2 | Interferon gamma receptor 2 | AR | Complete deficiency with protein level expression |
| AR | Complete deficiency with no protein level expression | ||
| AR | Partial deficiency with protein level expression | ||
| AD | Partial deficiency with protein level expression | ||
| STAT1 | Signal transducer and activator of transcription 1 | AD | Partial deficiency; protein expressed but not phosphorylated |
| AD | Partial deficiency; Mutant protein expressed but not bind to DNA | ||
| AD | Partial deficiency; Mutant protein expressed but not phosphorylated or bind to DNA | ||
| IRF8 | Interferon regulatory factor 8 | AD | Partial deficiency with mutant protein expression |
| CYBB | Cytochrome b-245, beta polypeptide | XR | Complete deficiency with mutant protein expression |
| ISG15 | ISG15 ubiquitin-like modifier | AR | Complete deficiency with no mutant protein expression |
| RORC | RAR-related orphan receptor gamma | AR | Complete IFNγ deficiency |
| JAK1 | Janus kinase | AR | Complete and partial impaired response to IFNγ |
| IL12RB2 | Interleukin 12 Receptor Subunit Beta 2 | AR | Complete IFNγ deficiency with normal/ decreased protein expression |
| IL23R | Interleukin 23 receptor | AR | Complete IFNγ deficiency with normal/ decreased protein expression |
| SPPL2A | Signal Peptide Peptidase Like 2A | AR | Complete IFNγ deficiency with no/decreased/normal protein expression |
AR, Autosomal recessive; AD, Autosomal dominant; XR, X-linked recessive.
The genetic etiology of these genes such as autosomal recessive (AR), autosomal dominant (AD) or X-linked recessive (XR) and the functional consequences of the mutation whether it is a complete or partial loss of the protein along with its expression are described.