Patient characteristics
| Patient . | Age, y . | Sex . | Onset . | Mutations . | Historical clinic status . | Experimental time clinic status . |
|---|---|---|---|---|---|---|
| 1* | 25 | F | Morocco | IL12RB1 K305X | BCGite + Salmonella | Salmonella suspicion |
| 2*† | 34 | F | France | [IL12RB1 1745]−1746insCA+1483+182-1619-1073del | BCGite + Salmonella | Asymptomatic |
| 3* | 4 | F | France | IL12RB1 Q32X | BCGite | Asymptomatic |
| 4* | 16 | F | Belgium | IL12RB1 Q32X | Asymptomatic | Asymptomatic |
| 5 | 11 | M | Turkey | IL12RB1 R173P | Salmonella | Asymptomatic |
| 6* | 6 | M | Israel | IL12RB1 700+362-1619-944del | Salmonella | Asymptomatic |
| 7 | 9 | M | Saudi Arabia | IL12RB1 1190-1G>A | BCGite + Salmonella | Salmonella |
| 8 | 13 | M | Saudi Arabia | IL12RB1 1190-1G>A | Salmonella | Salmonella |
| 9 | 5 | M | Tunisia | IL12 297del8 | Salmonella | Salmonella + asymptomatic |
| Patient . | Age, y . | Sex . | Onset . | Mutations . | Historical clinic status . | Experimental time clinic status . |
|---|---|---|---|---|---|---|
| 1* | 25 | F | Morocco | IL12RB1 K305X | BCGite + Salmonella | Salmonella suspicion |
| 2*† | 34 | F | France | [IL12RB1 1745]−1746insCA+1483+182-1619-1073del | BCGite + Salmonella | Asymptomatic |
| 3* | 4 | F | France | IL12RB1 Q32X | BCGite | Asymptomatic |
| 4* | 16 | F | Belgium | IL12RB1 Q32X | Asymptomatic | Asymptomatic |
| 5 | 11 | M | Turkey | IL12RB1 R173P | Salmonella | Asymptomatic |
| 6* | 6 | M | Israel | IL12RB1 700+362-1619-944del | Salmonella | Asymptomatic |
| 7 | 9 | M | Saudi Arabia | IL12RB1 1190-1G>A | BCGite + Salmonella | Salmonella |
| 8 | 13 | M | Saudi Arabia | IL12RB1 1190-1G>A | Salmonella | Salmonella |
| 9 | 5 | M | Tunisia | IL12 297del8 | Salmonella | Salmonella + asymptomatic |
Indicated IL-12Rβ1– or IL-12p40–deficient patients (n = 9, 13.7 ± 10 years old, M/F ratio: 5:4) were analyzed in comparison with healthy control individuals (n = 16, 26.1 ± 12.0 years old, M/F ratio: 4:12 for the phenotypic analysis; n = 13, 29.5 ± 8.4 years old, M/F ratio: 3:10 for the functional analysis).
The patients P1, P2, P3, P4, and P6 were previously described in Fieschi et al27 as 1.II.2, 19.II.1, 20.II.1, 21.II., and 10.II.1, respectively.
The patient contracted hepatitis C virus (HCV) after a blood transfusion.