Table 1.
Characteristics of the patients and medications.
| Pt | Diagnosis and Symptoms | Medications | |||
|---|---|---|---|---|---|
| Previous Medications | JAKinhib | Concomitant Medications | Adverse Events | ||
| #1 | Monogenic lupus (DNase2 deficiency) Lipodystrophy, arthritis, lupus pernio, distal ulcers, hepatosplenomegaly, recurrent fever, growth deficiency |
Corticosteroids, methotrexate, mycophenolate, hydroxychloroquine, etanercept, anakinra, thalidomide, canakinumab, abatacept | Ruxolitinib (7.5 mg/BID) |
Corticosteroids, hydroxychloroquine, mepacrine, ambrisentan, tadalafil, iloprost, furosemide, cotrimoxazole | Worsening of lymphopenia |
| #2 | CANDLE Lipodystrophy, arthritis, lupus pernio, distal ulcers, growth deficiency |
Cyclosporine, anakinra, IVIG, cyclophosphamide, azathioprine, infliximab, hydroxychloroquine, abatacept, hyperbaric oxygen | Tofacitinib (7.5 mg/BID) |
Atorvastatin, corticosteroids | Transient increase of gamma glutamyltransferase and dyslipidemia |
| #3 | COPA Arthritis, cough |
Corticosteroids, mycophenolate, hydroxychloroquine, methotrexate | Baricitinib (2 mg/BID) |
Mycophenolate, corticosteroids | None |
| #4 | Polyarticular JIA Arthritis, articular deformity |
Corticosteroids, methotrexate, etanercept, tocilizumab | Tofacitinib (5 mg/BID) |
Methotrexate | None |
| #5 | Weber-Christian Panniculitis Recurrent panniculitis, recurrent fever, arthralgia, fatigue |
Corticosteroids, mycophenolate, cyclosporine, anakinra | Baricitinib (2 mg/TID) |
Cyclosporine, cotrimoxazole | None |
| #6 | SLE Headache, fatigue, social isolation, fever, malar rash |
Corticosteroids, mycophenolate, hydroxychloroquine | Baricitinib (4 mg/QD) |
Mycophenolate, Hydroxychloroquine | None |
| #7 | Juvenile systemic sclerosis Raynaud, distal ulcers, stiffness, arthritis |
Mycophenolate, corticosteroids, rituximab * | Tofacitinib (5 mg/BID) |
Mycophenolate, corticosteroids | None |
Pt, patient; CANDLE, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; IVIG, intravenous immunoglobulins; BID, bidaily; JIA, juvenile idiopathic arthritis; TID, tridaily, SLE, systemic lupus erythematosus; QD, once a day. * The baseline sample considered in the later RNAseq analysis was collected before starting any pharmacological treatment (medication-naive), in contrast to the other patients.