Table 1.
Patient characteristics
| Pat. 1 | Pat. 2 | Pat. 3 | ||
|---|---|---|---|---|
| Mutation | V155M | R281Q | N154S | |
| Mutation type | Heterozygous | Heterozygous | Heterozygous | |
| Sex | F | F | F | |
| Age (years) | 10 | 8 | 2 | |
| Age onset | 8 months | 3 months | 3 days | |
| Failure to thrive | + | + | + | |
| Recurrent fever | + | + | + | |
| Severe infections before ruxolitinib therapy | – | Bronchiolitis, pneumonia (S. pneumoniae, P. aeruginosa), chronic lung colonization (P. aeruginosa) | – | |
| Acute-phase reactants | CRP (mg/dl, n.v. < 0.46) | 0–4.2 | 0–15 | 12–34 |
| ESR (mm/h, n.v. < 10) | 48–57 | 23–24 | 20–79 | |
| Acral ulcers | ++ | + | ++ | |
| Skin | Maculopapular lesions evolving to ulcers | Malar rash | Erythematosus vesicular rash on nose, cheeks, hands, and feet with evolution to pustules and scars | |
| Histological findings at skin biopsy | Granulomatous nodular dermatitis, with deep granulomatous folliculitis and secondary fibrosis | Not performed | Neutrophilic dermatosis with karyorrhexis throughout the vessel wall | |
| Interstitial lung disease | + | ++ | ++ | |
| Histological findings at lung biopsy | Lymphocytic aggregates in the peribronchial interstitial areas with aspects of capillaritis, and contiguous focal sub-atelectasis with macrophages infiltrating the alveoli | Interstitial fibrosis without signs of vasculitis | Not performed | |
| Auto antibodies | ANA, pANCA, PR3 | cANCA, anti-cardiolipin, B2GLG | cANCA, PL, anti-cardiolipin, PT | |
| Arthralgia or arthritis | + | – | – | |
| Nephrology | Hypertension microhematuria | Hypertension | – | |
| Ineffective drugs | AZA, etanercept | MTX, infliximab | ||
| Years at ruxolitinib start | 9 | 7 | 2 |
ANA anti-nuclear antibodies, ANCA anti-neutrophil cytoplasm antibodies, PR3 anti-proteinase 3 antibodies, B2GLG anti-beta2 glycoprotein, IgG subtype, PL anti-phospholipid antibodies, PT anti-prothrombin antibodies, AZA azathioprine, MTX methotrexate