Impaired ADAM17-dependent EGFR signaling drives IL-12B-mediated inflammation in neonatal inflammatory skin and bowel disease (ESDR 2026) - Sep 9, 2026 - Abstract #LB063; Pres time: Sep 12, 2026; 11:00 AM - 12:00 PM; Location: Forum 4; "Based on this molecular profile, treatment with ustekinumab induced sustained improvement of erythroderma, scaling, pruritus and infection frequency, accompanied by reduced IL-12B expression and restoration of circulating skin-homing Tregs. These findings identify impaired ADAM17-dependent EGFR signaling as a driver of Treg deficiency and IL-12B-mediated inflammation in NISBD1 and support the use of comprehensive molecular profiling to guide precision therapy in this ultra-rare disorder."
Late-breaking abstract • Dermatopathology • Gastrointestinal Disorder • Infectious Disease • Inflammation • Inflammatory Bowel Disease • Pruritus • Rare Diseases • ADAM17 • IL12B
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Monika Ettinger-Krautgartner 1,2; Teresa Burner 2; Leonie C. Schoeftner 3; Sabine Altrichter 1,2; Thomas Bauer 6; Emmanuella Guenova 5; Iris K. Gratz 3; Dirk Schmidt-Arras 4; Susanne Kimeswenger 2; Wolfram Hoetzenecker 1,2
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