Case Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy
sHLH is an exceptionally rare complication in APS-1 and has so far been reported in only one patient with a combined EBV and SARS-CoV-2 infection. aHUS has never been described in patients with APS-1. This case highlights the potential for hyperinflammatory and complement-mediated complications in APS-1, supporting the hypothesis of a cytokine storm syndrome that bridges features of sHLH and aHUS. It broadens the known spectrum of immune dysregulation in APS-1 and underscores the importance of early recognition and combined immunomodulatory treatment in similar clinical scenarios.
Authors
- Elisabetta Toriello
- P. Italiani
- Emma Coppola
- Anna Teresa Palatucci
- Mariacarolina Salerno (ORCID: https://orcid.org/0000-0003-1310-3300)
- Claudio Pignata (ORCID: https://orcid.org/0000-0003-1568-9843)
- Giuseppina Ruggiero (ORCID: https://orcid.org/0000-0002-8975-6001)
- Donatella Capalbo
- A. De Rosa (ORCID: https://orcid.org/0000-0002-6009-1042)
- Emilia Cirillo (ORCID: https://orcid.org/0000-0002-0605-649X)
- Valentina Rubino (ORCID: https://orcid.org/0000-0002-5646-2795)
- Giuliana Giardino (ORCID: https://orcid.org/0000-0002-0621-9527)
- Diana Boraschi
- Roberta Romano
Institutions
- Federico II University Hospital (IT)
- Institute for Experimental Endocrinology and Oncology (IT)
- National Research Council (IT)
- Institute of Cell Biology and Neurobiology (IT)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-09-09
- DOI
- https://doi.org/10.3389/fimmu.2025.1667000
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00