Redox imbalance and NLRP3 activation: H syndrome mistaken for CAPS—a case report
This case highlights the phenotypic overlap between H syndrome and CAPS, including shared inflammasome dysregulation. Absence of typical skin hyperpigmentation delayed diagnosis despite early-onset systemic inflammation and partial response to IL-1 blockade. Functional assays may support diagnostic refinement in autoinflammatory syndromes with atypical features or inconclusive genetics.
Authors
- Silvia Viaggi (ORCID: https://orcid.org/0000-0002-3732-9462)
- Enrico Drago (ORCID: https://orcid.org/0000-0002-0836-3610)
- Anna Agrusti
- Ignazia Prigione (ORCID: https://orcid.org/0000-0002-0877-6255)
- Silvia Maria Orsi (ORCID: https://orcid.org/0009-0005-9743-3068)
- Roberta Caorsi (ORCID: https://orcid.org/0000-0003-0131-7846)
- Stefano Volpi (ORCID: https://orcid.org/0000-0002-7129-868X)
- Marco Gattorno (ORCID: https://orcid.org/0000-0003-0704-1916)
- Paola Bocca (ORCID: https://orcid.org/0000-0002-7498-209X)
- Valentina Natoli (ORCID: https://orcid.org/0000-0001-6733-4134)
- Serena Palmeri (ORCID: https://orcid.org/0000-0001-7670-6825)
- Riccardo Papa (ORCID: https://orcid.org/0000-0002-9626-5470)
- Roberta Bertelli
- Federica Penco
- Francesca Schena
Institutions
- Istituto Giannina Gaslini (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Dana-Farber/Boston Children's Cancer and Blood Disorders Center (US)
- University of Genoa (IT)
Publication Details
- Journal
- Lara D. Veeken
- Published
- 2025-12-09
- DOI
- https://doi.org/10.1093/rheumatology/keaf663
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00