Table 1.
Patient characteristics
Patient | Age | Sex | Immunodeficiency | Mutation | Country of origin | Age at disease onset | Isolated mycobacterial strains | Disease localization | Interferon treatment |
---|---|---|---|---|---|---|---|---|---|
1 | 22 | female | complete IFNγR1 deficiency | compound heterozygous 373(+1)g→t 202(-1)g→c |
US | 1 yr | MAC M. fortuitum M. kansasii M. abscessus |
bone bone marrow liver lung lymph nodes |
IFNα2b |
2 | 19 | Male | complete IFNγR1 deficiency | homozygous 22delC |
Pakistan | 2 yr | MAC M. abscessus |
blood liver lung lymph nodes skin |
IFNα2b → PEG IFN alpha |
3 | 5 | Male | partial IFNγR1 deficiency | homozygous I87T |
Chile | 2 mo | M. bovis BCG | bone brain lung lymph nodes pleura skin |
IFNα2b & IFNγ |
4 | 52 | female | partial IFNγR1 deficiency | heterozygous 818del4 |
US | 20 yr | MAC M. fortuitum M. avium X-cluster |
Maxillary sinus skin palate lymph nodes |
IFNα2b & IFNγ |