Table 1.
Genetic and clinical manifestations of patients with complete IL-12Rβ1 deficiency
| Case | Age of investigation |
Age of onset |
Candida infection |
Mycobacterial osteomyelitis |
Treatment | Outcome | Mutation |
|---|---|---|---|---|---|---|---|
| P1 | 7 years | 4 months: BCG-itis | + | − | INH, RIF, CLM, ETB, INF-γ | alive | c.1172delC/1172delC |
| P2 | 5 years | 4 months: BCG-itis | + | − | RIF,CLM,INH, IFN-γ | alive | c.1791+2T>G/1791+2T>G |
| P3 | 26 years | 2 years: BCG-itis | − | + | RIF, CLM,INH | alive | c.1791+2T>G/1791+2T>G |
| P4 | 3 months | 3 months: BCG-itis | − | − | INH, CLM,RIF | dead | c.962C>A /962C>A |
Isoniazid (INH), Rifampicin (RIF), Clindamycin (CLM), Ethambutol (ETB)