Table 3.
Patients and their chacteristics
| Patient | Diagnosis | Sex | Age at the time of onset of symptoms | Age at the time of diagnosis | Clinical finding | Mycobacterium strain isolated | HSCT | Final state |
|---|---|---|---|---|---|---|---|---|
| 1 | CGD | M | 12 months | 60 months | Lung tb, Lymphadenopathy, HSM | M. tuberculosis (Sputum) | Not performed | Exitus |
| 2 | CGD | M | 12 months | 96 months | Lymphadenopathy, HSM | None | Not performed | Exitus |
| 3 | CGD | M | 3.5 months | 10 months | Lung tb, Lymphadenopathy, HM | M. tuberculosis (FGF) | Not performed | Living |
| 4 | CGD | M | 3 months | 84 months | Lymphadenopathy, HM | None | Not performed | Living |
| 5 | CGD | M | 3 months | 12 months | Lung tb, Lymphadenopathy, HSM | None | Performed | Living |
| 6 | CGD | M | 18 months | 36 months | Lung tb, Lymphadenopathy | None | Not performed | Exitus |
| 7 | CGD | M | 4 months | 18 months | Lung tb, Lymphadenopathy, HM | None | Performed | Living |
| 8 | CGD | F | 4 months | 12 months | Lung tb, Lymphadenopathy, HSM | None | Not performed | Living |
| 9 | CGD | M | 4 months | 19 months | Lymphadenopathy, HM | None | Performed | Exitus |
| 10 | CGD | F | 12 months | 14 months | Lymphadenopathy | None | Not performed | Living |
| 11 | CGD | M | 3 months | 6 months | Lung tb, HSM | None | Not performed | Living |
| 12 | CGD | F | 6 months | 12 months | Lung tb | M. tuberculosis (FGF) | Not performed | Exitus |
| 13 | Partial IFNGR2 deficiency | F | 4 months | 5 months | HSM, Lymphadenopathy | M. bovis (Lymph node) | Not performed | Living |
| 14 | Partial IFNGR2 deficiency | M | 2 months | 96 months | Lymphadenopathy | M. elephantis (Lymph node) | Not performed | Living |
| 15 | Partial IFNGR2 deficiency | M | 36 months | 36 months | HSM, Lymphadenopathy | None | Not performed | Living |
| 16 | Partial IFNGR2 deficiency | M | 7 months | 7 months | Lymphadenopathy | None | Not performed | Living |
| 17 | NEMO | M | 7 months | 30 months | HSM, Lymphadenopathy, Abscesses in the body | M. bovis (Lymph node, abscess, CNS, liver) | Not performed | Exitus |
| 18 | IL12 R1 defect | F | 1 months | 96 months | Lymphadenopathy, SM | M. cholenae (Lymph node) | Not performed | Living |
| 19 | IL12 R1 defect | M | 96 months | 120 months | Lymphadenopathy, HSM | M. fortiutum and M. chlonea (Lymph node) | Not performed | Exitus |
| 20 | SCID | M | 2 months | 18 months | Abscesses in the body | M. bovis (Abscess) | Performed | Living |
| 21 | SCID | M | 1 months | 6 months | Lymphadenopathy | None | Performed | Living |
| 22 | SCID | F | 2.5 months | 11 months | Lymphadenopathy | M. bovis (Lymph node) | Performed | Exitus |
| 23 | SCID | M | 1 months | 5 months | Lymphadenopathy, HSM | M. bovis (Lymph node) | Performed | Living |
| 24 | SCID | M | 3 months | 7 months | Rash, Lymphadenopathy | M. bovis (Lymph node) | Performed | Living |
| 25 | Complete IFNGR1 deficiency | M | 6 months | 10 months | Lymphadenopathy, HSM |
M. bovis, M. fortuitum (Lymph node) M. tuberculosis (Bone marrow) M. avium intracellulare (FGF) |
Performed | Exitus |
CGD: chronic granulomatous disease; HM: hepatomegaly; HSCT: hematopoetic stem cell transplantation; HSM: hepatosplenomegaly; IFNGR2: IFN-γ receptor 2; IFNGR1: IFN-γ receptor 1; IL12R1: interleukin 12 receptor beta 1; NEMO: nuclear factor kappa beta essential modulator; SCID: severe combined immune deficiency; SM: splenomegaly