Table 2.
Clinical features of patients with severe infectious events.
| Patient | Phenotype | Genetic defect | SIE (n) | MMF (months) | SR (months) | Type of infection | Previous therapy | Treatments during SIE |
|---|---|---|---|---|---|---|---|---|
| 1 | ALPS-like | – | 2 | 53 | 31 | -Pyelonephritis -Sepsis by E. coli |
MTX, HCQ, azathioprine, CPM, tacrolimus, thalidomide, bortezomib, eculizumab, belimumab MMF |
SR |
| 2 | ALPS | – | 1 | 144 | 0 | Pneumonia | – | MMF |
| 3 | ALPS | – | 1 | 0 | 22 | Gastroenteritis | – | SR |
| 4 | ITP | – | 1 | 4 | 46 | Pneumonia | – | SR |
| 5 | ALPS-like | – | 2 | 0 | 6 | -Pneumonia -Sepsis |
Steroid | SR |
| 6 | ALPS-like | NEMO | 1 | 0 | 72 | Pneumonia | Steroid | SR |
| 7 | ALPS-like | LRBA | 1 | 24 | 100 | Pneumonia | Steroid, Abatacept | SR |
| 8 | ALPS-like | IPEX | 1 | 15 | 73 | Pneumonia | – | SR |
| 9 | ALPS-like | – | 1 | 6 | 52 | SARS-CoV-2 Pneumonia | Steroid, IVIG | SR, steroid thalidomide |
| 10 | ALPS-like | RMRP | 2 | 0 | 98 | -Abdominal infection -Meningitis (Cryptococcus) |
IVIG | SR |
| 11 | ALPS-like | STAT3 GOF | 1 | 11 | 40 | Pneumonia | Steroid, IVIG, rituximab | SR |
| 12 | ALPS-like | – | 1 | 0 | 35 | Pneumonia | Steroid | SR |
| 13 | ALPS-like | TNFSR3B | 1 | 1 | 4 | Viral pneumonia | – | SR |
ALPS, autoimmune lymphoproliferative syndrome; CPM, cyclophosphamide; ES, Evans syndrome; HCQ, hydroxychloroquine; IPEX, immune dysregulation, polyendocrinopathy, enteropathy, X-linked; ITP, immune thrombocytopenia; LRBA, lipopolysaccharide-responsive and beige-like anchor protein; MMF, mycophenolate mofetil; MTX, methotrexate; NEMO, NF-kb essential modulator; RMRP, RNA component of the mitochondrial RNA-processing endoribonuclease; SIE, severe infectious event; SR, sirolimus; STAT3, signal transducer and activator of transcription 3.