Somatic mutations in Brazilian patients with paroxysmal nocturnal hemoglobinuria: a comprehensive analysis
In conclusion, the somatic variants in Brazilian PNH patients displayed variability in both site distribution and type. Contrary to mutational hotspots observed in previous studies, none were identified in this cohort. No specific correlation between the clinical characteristics of hemolytic PNH patients and their variants was found, likely due to the extensive variety of mutations.
Authors
- Fabiana Bettoni (ORCID: https://orcid.org/0000-0002-6611-7442)
- Patrícia Eiko Yamakawa (ORCID: https://orcid.org/0000-0002-5675-0893)
- Agatha Ribeiro Mendes
- Celso Arrais‐Rodrigues (ORCID: https://orcid.org/0000-0002-6395-6849)
- Catarina S. Oliveira (ORCID: https://orcid.org/0000-0002-1305-6607)
- João Bosco Pesquero (ORCID: https://orcid.org/0000-0002-4507-632X)
- Caio Perez Gomes (ORCID: https://orcid.org/0000-0002-6553-7701)
- Vinícius Campos de Molla (ORCID: https://orcid.org/0000-0002-3598-2572)
- Jéssica Branquinho (ORCID: https://orcid.org/0009-0000-3775-9887)
- Florêncio Porto Freitas (ORCID: https://orcid.org/0000-0002-0369-4488)
- Ernande Xavier dos Santos
- Matheus Vescovi Gonçalves
- Beatriz Ribeiro Nogueira
Institutions
- University of Würzburg (DE)
- Hospital Sírio-Libanês (BR)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-02-24
- DOI
- https://doi.org/10.3389/fmed.2025.1472186
- Primary Topic
- Complement system in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00