Comprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS
Egyptian children with aHUS demonstrate marked genetic heterogeneity. A substantial proportion lacked identifiable pathogenic variants, highlighting the complexity of the disease. CFHR3/CFHR1 deletion was the most frequent finding. Genetic profiling remains crucial for anticipating relapse risk and guiding therapeutic decisions, particularly in resource-limited settings.
Authors
- Khalda Amr (ORCID: https://orcid.org/0000-0001-8472-5911)
- Ghada Youssef El-Kamah
- Mohamed S. Thabet
- Shorouk A.Othman
- Rasha EssamEldin Galal
- Amr Mohamed Salem
- Fatina I. Fadel
- Mohamed A Abdel Mawla
Institutions
- Cairo University (EG)
- National Research Centre (EG)
- National Water Research Center (EG)
Publication Details
- Journal
- Journal of Genetic Engineering and Biotechnology
- Published
- 2025-12-31
- DOI
- https://doi.org/10.1016/j.jgeb.2025.100656
- Primary Topic
- Complement system in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00