NextGen 2024: Refractory SJIA & MAS Session Part 7

NextGen 2024: Refractory SJIA & MAS Session Part 7

• 1. Refractory disease (Still’s +/- MAS) Juan Manuel Mosquera A. Pediatric Rheumatologist Attending physician at Pediatric Rheumatology section in Sant Joan de Déu Children’s Hospital

• 2. • ATS, 11 yr, , 33 kg, latino origin • Cholinergic urticaria and atopic dermatitis • Typical Still onset – MAS (Fever, arthralgia, sore throat, rash) • ↑WBC, ESR, CRP, ferritin, LFT, S100A8/A9, IL18 and triglycerids, ↓ PLT, fibrinogen. HLA-DRB1*15 • NGS panel for AID (Heterozygous DNASE2 c.995C>A VUS and PSMB8 c.-5C>T VUS) and PID performed • HRCT negative • Antiviral and antibacterial prophylaxis CS + ANK + CsA + IVIG Emapalumab (+CS + ANK + CsA) CS + ANK + CsA TCZ + CsA (+CS) TCZ (+CS) TK + IVIG (+TCZ + CS) SARS-CoV2 CMV reactivation Adenovirus SARS-CoV2 Adenovirus CMV reactivation Rhino/Enterovirus Rhino/Enterovirus Rhino/Enterovirus

• 3. • JMA, , 13 yr, 45 kg, Philippine origin. Any relevant past history • Typical Still disease onset (fever, sore throat, myalgia, rash, serositis, w/o arthritis) • ↑WBC, ESR, CRP, ferritin, LFT, S100A8/A9, IL18 and 🡪 PLT, fibrinogen, triglycerids. HLA-DRB1*15 • HRCT negative • DRESS like reaction (26/05/24) 🡪 Rash and ↑LFT IV MP pulses + oral CS Anakinra 2,2 mg/kg (+ CS) Tocilizumab 8 mg/kg (+ CS) Tacrolimus 0,1 mg/kg (+ CS) Baricitinib 4 mg/d (+ TK + CS)

• 4. Juanmanuel.mosquera@sjd.es Enfermedades Autoinmunes y Autoinflamatorias XUEC en malalties autoimmunes sistèmiques I autoinflamatòries