Table 2:
Overview of diseases underlying “syndromic” Mendelian susceptibility to mycobacterial disease (MSMD)§
| Gene | Inheritance | Defect | Protein |
|---|---|---|---|
| TYK2 | AR | C | E− |
| JAK1 | AR | P | E− |
| RORC | AR | C | E− |
| ISG15 | AR | C | E− |
| IRF8 | AR | C | E− or E+ |
| STAT1 | AR | C | E− |
| AR | P | E+ |
AR: autosomal recessive, AD: autosomal dominant, C: complete, P: partial, E: expression of protein.
§
Some patients with the genotypes described in this table present with a pure phenotype of MSMD (isolated MSM). However, most patients display a broader, “syndromic” phenotype (see text).