Long‐term remission with ustekinumab in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome suggests the importance of interleukin‐12/interleukin‐23 cytokines in PSTPIP1–associated inflammatory diseases

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...

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Published in:Arthritis & Rheumatology Vol. 78; no. 4; pp. 1000 - 1005
Main Authors: Wittmann, Nico, Nell, Dominik, Mohs, Magdalena, Grude, Marie C., Mishra, Neha, Meyer‐Bahlburg, Almut, Bossaller, Lukas
Format: case study letter pictorial tables/charts Journal Article
Published: Wiley-Blackwell Apr2026
Online Access:View this record in EBSCOhost
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      dt: Apr2026
      vid: 78
      iid: 4
      pid: 480
      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        192816842
        191481145
        192816842
        192816842
        10.1002/art.43399
        192816842
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        atl: Long‐term remission with ustekinumab in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome suggests the importance of interleukin‐12/interleukin‐23 cytokines in PSTPIP1–associated inflammatory diseases
      aug:
        au:
          Wittmann, Nico
          Nell, Dominik
          Mohs, Magdalena
          Grude, Marie C.
          Mishra, Neha
          Meyer‐Bahlburg, Almut
          Bossaller, Lukas
        affil: Section of Pediatric Rheumatology and Immunology, Department of Pediatric and Adolescent Medicine, University Medicine Greifswald, Greifswald, Germany
      sug:
        subj:
          Disease Remission
          Antibodies, Monoclonal Therapeutic Use
          Arthritis, Infectious Familial and Genetic
          Pyoderma Gangrenosum Familial and Genetic
          Acne Vulgaris Familial and Genetic
          Interleukins Blood
          Cytokines Blood
          Autoimmune Diseases Familial and Genetic
          Arthritis, Infectious Drug Therapy
          Acne Vulgaris Drug Therapy
          Pyoderma Gangrenosum Drug Therapy
          Wound Healing
          Colitis, Ulcerative
          Cell Culture Techniques
          Mutation
          Inflammation Mediators
      ab: 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.
      pubtype: Academic Journal
      doctype:
        case study
        letter
        pictorial
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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