TABLE 1.
Infections in Patients With Mutations in IL12RB1 (Protein IL-12Rβ1) or IL12B (Protein IL-12p40)
| Infection | Gene | Mutation | Patients/Kindreds | Reference No. |
|---|---|---|---|---|
| Patients with single infection | ||||
| M bovis BCG | IL12RB1 | 783+1 G→C | 1/1 | 19 |
| IL12RB1 | 853 C→T | 4/2 | 20 | |
| 1791+2 T→G | ||||
| IL12B | g.315_316insA | 3/2 | 4 | |
| IL12B | g.297del8 | 3/1 | 21 | |
| M avium | IL12RB1 | Not identified | 2/2 | 5 and 19 |
| IL12RB1 | R213W | 1/1 | 22 | |
| IL12RB1 | C65_68del CTGC | 1/1 | 23 | |
| Salmonella group D | IL12RB1 | C186S | 1/1 | 24 |
| S enteritidis | IL12RB1 | 700+362_1619–944 del | 1/1 | 5 and 25 |
| IL12RB1 | Not identified | 1/1 | 26 | |
| IL12B | g.482+82_856–854 del | 2/2 | 4 | |
| IL12RB1 | R173P | 1/1 | 27 | |
| M tuberculosis | IL12RB1 | 1791+2T→G | 2/1 | 5 and 28 |
| IL12RB1 | R213W | 1/1 | 29 | |
| Patients with ≥ 2 infections | ||||
| BCG + Salmonella | IL12RB1 | K305X | 1/1 | 19 |
| IL12RB1 | 1791+2 T→G | 1/1 | 28 | |
| IL12RB1 | 783+1 G→A | 1/1 | 30 | |
| IL12B | g.482+82_856–854 del | 2/2 | 4 | |
| IL12B | g.315_316insA | 3/2 | 4 | |
| EM + Salmonella | IL12RB1 | Q214R | 1/1 | 5 and 19 |
| IL12RB1 | Q32X | 1/1 | 31 | |
| IL12RB1 | Q376X | 1/1 | 31 | |
| IL12RB1 | 1021+1 G→C | 1/1 | 32 | |
| IL12RB1 | del exon 8–13 | 1/1 | 33 | |
| M tuberculosis + Salmonella | IL12RB1 | 1791+2 T→G | 2/1 | 5 and 28 |
| IL12B | g.315_316insA | 1/1 | 4 | |
| Patients with other infections | ||||
| BCG + Salmonella + Paracoccidioides brasiliensis | IL12RB1 | L77F | 1/1 | 34 |
| BCG + Nocardia asteroides | IL12B | g.315_316insA | 1/1 | 4 |
| Salmonella + Kingella kingae | IL12B | C186S | 1/1 | 5 |
| Salmonella + Leishmania sp | IL12RB1 | r.467_483del | 1/1 | 35 |
ins indicates insertion; del, deletion.