High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature
Interestingly, our results showed that the p.Ile357Met mutation was detected in 3 patients out of 11 (two children and one adult) as well as in one relative. Taking into account the high frequency of this pathogenic variant we could confirm that this latter is a hotspot which could be specific to our population. Thus, it would be interesting to look specifically for this variant in any Tunisian aHUS patient with decreased complement factor I level.
Authors
- I. Mami (ORCID: https://orcid.org/0000-0002-8668-3636)
- Asma Tajouri
- Abir Boussetta (ORCID: https://orcid.org/0000-0002-8034-2355)
- Y. Zerzeri
- Imen Ayadi (ORCID: https://orcid.org/0000-0003-4325-4900)
- Hend Jlajla
- Maryam Kallel Sellami (ORCID: https://orcid.org/0000-0003-0704-4965)
- L. Laadhar (ORCID: https://orcid.org/0000-0003-4211-7752)
- H. Sahli
- Tahar Gargah
- Mohamed Karim Zouaghi
- Rimeh BenBrahim
- Haifa Arbi Sassi
- Jamila Ben Sassi
Institutions
- Tunis University (TN)
- Hôpital La Rabta (TN)
- Hôpital Charles-Nicolle (TN)
- Tunis El Manar University (TN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-08-14
- DOI
- https://doi.org/10.3389/fimmu.2025.1623432
- Primary Topic
- Complement system in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Université de Tunis
- Akershus Universitetssykehus
- Université de Tunis El Manar