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Reply to ‘Inborn errors of immunity and AAV: a complex picture’

Nature Reviews Rheumatology (2025)Cite this article

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We thank Clément Triaille, Marie-Louise Frémond and Augusto Vaglio for their interest in our Review (Gül, A et al. The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis. Nat. Rev. Rheumatol. 21, 414–425 (2025))1, and for providing additional examples of monogenic disorders that can be associated with the development of anti-neutrophil cytoplasm antibodies (ANCA) and vasculitic manifestations (Triaille, C., Frémond, M. L. & Vaglio, A. Inborn errors of immunity and AAV: a complex picture. Nat. Rev. Rheumatol. https://doi.org/10.1038/s41584-025-01299-6 (2025))2.

In our Review1, we focused on monogenic autoinflammatory diseases that present with findings of vasculitis involving blood vessels of all sizes and types. The pathogenic mechanisms underlying these conditions are complex and include the activation of myeloid cells, type I interferon-driven autoimmune responses, dysregulated adaptive immunity, endothelial dysfunction and injury and thrombotic vasculopathies.

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Authors and Affiliations

  1. Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey

    Ahmet Gül

  2. Inflammatory Disease Section, National Human Genome Institute, National Institutes of Health, Bethesda, MD, USA

    Ivona Aksentijevich

  3. Infection, Immunity and Inflammation, University College London Great Ormond Street Institute of Child Health, London, UK

    Paul Brogan

  4. UOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto Giannina Gaslini, Genova, Italy

    Marco Gattorno

  5. National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA

    Peter C. Grayson

  6. Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey

    Seza Ozen

Authors
  1. Ahmet Gül
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  2. Ivona Aksentijevich
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  3. Paul Brogan
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  4. Marco Gattorno
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  5. Peter C. Grayson
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  6. Seza Ozen
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Correspondence to Ahmet Gül.

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Gül, A., Aksentijevich, I., Brogan, P. et al. Reply to ‘Inborn errors of immunity and AAV: a complex picture’. Nat Rev Rheumatol (2025). https://doi.org/10.1038/s41584-025-01298-7

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