Table 5.
Genetic Analysis of Moroccan Patients with Defects in Intrinsic and Innate Immunity
| Category | No. of patients | Gene | Transmission | Variation | Protein |
|---|---|---|---|---|---|
| MSMD | 9 | IL12RB1 | AR | c.913A>T | p.K305* |
| c.631C>T | p.R211* | ||||
| c.315delG | p. S106Lfs*24 | ||||
| 7 | STAT1 | AD | c.1492C>G | p. L498V | |
| c.2102A>G | p. Y701C | ||||
| c.469G>A | p. E157K | ||||
| c.2120T>A | c.2120T>A | ||||
| 2 | SPPL2A | AR | c.733+1G>A | Essential splicing site defect | |
| 2 | IFNGR1 | AR | c.295T>C | p. W99R | |
| c.131delC | p. P44fs* | ||||
| 2 | TYK2 | AR | c.3315_3316insC | p. T1106Hfs*4 | |
| 1 | TBX21 | AR | c.466_471delins AGT TTA | p. E156M157delinsSL | |
| CMC | 15 | GOF STAT1 | AD GOF | c.1154C>T | |
| c.1154C>T | |||||
| c.820C>T | p. R274W | ||||
| c.1885C>T | p. His629Tyr | ||||
| c.1633G>A | p. Glu545Lys | ||||
| c.265A>T | p. N89Y | ||||
| c.511G>A | p. Asp171Asn | ||||
| c.812A>C | p. Q271P | ||||
| c.800C>T | p. A267V | ||||
| c.194A>G | p. Asp65Gly | ||||
| c.194A>G | p. Asp65Gly | ||||
| c.800C>T | p. A267V | ||||
| IL17RA | AR | c.596C>A | p. Ser199* | ||
| c.596C>A | p. Ser199* | ||||
| c.163+1G>A | |||||
| Predisposition to severe viral infection | 3 | POLR3A | AD | c.1909+22g>A | |
| IFIH1 | AD or AR | p. Tyr896*/WT | |||
| TLR7 | XL | p. Phe690Ile/Y | |||
| Predisposition to bacterial infection | 3 | IRF4 | AD | p. Phe50Cys/WT | |
| IFNGR1 | AD or AR | p. Ser391Gly/WT | |||
| NCSTN | AD | p. Ser341Trp/WT | |||
| HSE | 1 | SNORA31 | AD | n.36 T>C | |
| IRAK4 deficiency | 1 | IRAK4 | AR | c.277deLT | p. F93fsX26 |