Clinical features and salient complications of the syndrome
| Clinical feature . | Frequency overall, percentage (n = 18), no. (%) . | Autosomal dominant patients, percentage (n = 7), no. (%) . | Sporadic patients, percentage (n = 11), no. (%) . |
|---|---|---|---|
| Infection | |||
| Mycobacteria | 14/18 (78) | 6/7 (86) | 8/11 (73) |
| HPV | 14/18 (78) | 6/7 (86) | 8/11 (73) |
| Fungi | 5/18 (28) | 3/7 (43) | 2/11 (18) |
| Complication | |||
| PAP | 6/18 (33) | 2/7 (29) | 4/11 (36) |
| Panniculitis/erythema nodosum | 6/18 (33) | 2/7 (29) | 4/11 (36) |
| Myelodysplasia/acute myeloid leukemia | 9/18 (50) | 5/7 (71) | 4/11 (36) |
| Death during study | 5/18 (28) | 3/7 (43) | 2/11 (18) |
| Clinical feature . | Frequency overall, percentage (n = 18), no. (%) . | Autosomal dominant patients, percentage (n = 7), no. (%) . | Sporadic patients, percentage (n = 11), no. (%) . |
|---|---|---|---|
| Infection | |||
| Mycobacteria | 14/18 (78) | 6/7 (86) | 8/11 (73) |
| HPV | 14/18 (78) | 6/7 (86) | 8/11 (73) |
| Fungi | 5/18 (28) | 3/7 (43) | 2/11 (18) |
| Complication | |||
| PAP | 6/18 (33) | 2/7 (29) | 4/11 (36) |
| Panniculitis/erythema nodosum | 6/18 (33) | 2/7 (29) | 4/11 (36) |
| Myelodysplasia/acute myeloid leukemia | 9/18 (50) | 5/7 (71) | 4/11 (36) |
| Death during study | 5/18 (28) | 3/7 (43) | 2/11 (18) |