Patient characteristics
| . | Patient 1 . | Patient 2 . | Patient 3 . | |
|---|---|---|---|---|
| JEM report | Davidson et al., 2024 | Davidson et al., 2024 | Takeda et al., 2024 | |
| OTULIN allele | p.C129S | p.C129S | p.R306Q | |
| Age | Gestational age at birth | 31 wk | Full-term | 33 wk |
| Disease onset | 4 days | 7 mo | At birth | |
| Manifestations | Skin | Necrotizing omphalitis; panniculitis; pathergy | Necrotizing fasciitis; panniculitis | Necrotizing omphalitis; pustulosis |
| Lungs | Acute respiratory distress | Recurrent respiratory tract infections | Acute respiratory distress | |
| Laboratory results | Inflammation | Neutrophilia; monocytosis; thrombocytopenia; elevated CRP | Neutrophilia; elevated CRP | Neutrophilia; thrombocytosis; elevated CRP |
| Autoimmunity | Not reported | Absent | Absent | |
| Cultures | S. aureus (trace) | Negative | S. aureus (trace) | |
| Treatment (response) | Steroids (+); Adalimumab (+); antibiotics (±) | Steroids (+); Infliximab (+); antibiotics (±) | Steroids (+); Etanercept (+); antibiotics (±) | |
| . | Patient 1 . | Patient 2 . | Patient 3 . | |
|---|---|---|---|---|
| JEM report | Davidson et al., 2024 | Davidson et al., 2024 | Takeda et al., 2024 | |
| OTULIN allele | p.C129S | p.C129S | p.R306Q | |
| Age | Gestational age at birth | 31 wk | Full-term | 33 wk |
| Disease onset | 4 days | 7 mo | At birth | |
| Manifestations | Skin | Necrotizing omphalitis; panniculitis; pathergy | Necrotizing fasciitis; panniculitis | Necrotizing omphalitis; pustulosis |
| Lungs | Acute respiratory distress | Recurrent respiratory tract infections | Acute respiratory distress | |
| Laboratory results | Inflammation | Neutrophilia; monocytosis; thrombocytopenia; elevated CRP | Neutrophilia; elevated CRP | Neutrophilia; thrombocytosis; elevated CRP |
| Autoimmunity | Not reported | Absent | Absent | |
| Cultures | S. aureus (trace) | Negative | S. aureus (trace) | |
| Treatment (response) | Steroids (+); Adalimumab (+); antibiotics (±) | Steroids (+); Infliximab (+); antibiotics (±) | Steroids (+); Etanercept (+); antibiotics (±) | |