| Sumario: | This article focuses on the clinical presentation and treatment response of a family affected by proline/serine/threonine phosphatase–interacting protein 1 (PSTPIP1)–associated inflammatory disease, specifically pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. The mother, carrying a common PSTPIP1 mutation (A230T), exhibited refractory pyoderma gangrenosum and ulcerative colitis, achieving long-term remission with ustekinumab, an interleukin (IL)-12/23 inhibitor, after inadequate response to anakinra. Serum cytokine analysis revealed elevated IL-1β, IL-18, IL-33, interferon-α, IL-12, and IL-23 levels in patients compared to healthy donors, with IL-12/23 blockade correlating with clinical improvement despite persistent cytokine elevations. These findings suggest a potential therapeutic role for IL-12/23 inhibition in PAPA syndrome, particularly in cases complicated by ulcerative colitis or resistant to standard treatments.
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