Majeed syndrome: first description in a patient of central-European ancestry
We describe the first case of Majeed syndrome in a patient of central-European ancestry. The functional test on circulating monocytes before and after therapy with anakinra confirmed pathogenicity of the mutation and the role of LPIN2 in the NLRP3 inflammasome activation. Anti-IL1 agents were effective, leading not only to the resolution of bone lesions but also to an improvement of dyserythropoiesis.
Authors
- Lorenzo Anfigeno (ORCID: https://orcid.org/0000-0001-9902-1810)
- Isabella Ceccherini (ORCID: https://orcid.org/0000-0001-8732-1955)
- Enrico Drago (ORCID: https://orcid.org/0000-0002-0836-3610)
- Maurizio Miano (ORCID: https://orcid.org/0000-0002-9816-1704)
- Arinna Bertoni (ORCID: https://orcid.org/0000-0001-8317-9584)
- Roberta Caorsi (ORCID: https://orcid.org/0000-0003-0131-7846)
- Stefano Volpi (ORCID: https://orcid.org/0000-0002-7129-868X)
- Alice Grossi (ORCID: https://orcid.org/0000-0002-4570-3485)
- Maria Beatrice Damasio (ORCID: https://orcid.org/0000-0001-6737-1090)
- Marco Gattorno (ORCID: https://orcid.org/0000-0003-0704-1916)
- Riccardo Papa (ORCID: https://orcid.org/0000-0002-9626-5470)
Institutions
- Istituto Giannina Gaslini (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Genoa (IT)
Publication Details
- Journal
- Lara D. Veeken
- Published
- 2024-09-10
- DOI
- https://doi.org/10.1093/rheumatology/keae480
- Primary Topic
- Osteomyelitis and Bone Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Eli Lilly and Company
- Swedish Orphan Biovitrum