E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?
• The p.E148Q variant has clinical significance in particular ethnicities, as supported by a significant reduction in CRP levels following colchicine treatment. • The p.E148Q variant, whether alone or with p.V726A, generally results in mild to moderate FMF severity.
Authors
- Lana Khoury (ORCID: https://orcid.org/0000-0003-2757-6766)
- Joeri W. van Straalen (ORCID: https://orcid.org/0000-0002-8766-6694)
- Mohamad Hamad Saied (ORCID: https://orcid.org/0000-0001-7450-4146)
- Tal Gazitt (ORCID: https://orcid.org/0000-0001-8612-2698)
- Adi Miller‐Barmak
- Elham Orouk Awaad
- Jumana Haddad-Haloun
- Riva Brik
Institutions
- Technion – Israel Institute of Technology (IL)
- University of Washington Medical Center (US)
- University Medical Center Utrecht (NL)
- Carmel Medical Center (IL)
- Rappaport Family Institute for Research in the Medical Sciences (IL)
- Wilhelmina Children's Hospital (NL)
Publication Details
- Journal
- European Journal of Pediatrics
- Published
- 2024-08-15
- DOI
- https://doi.org/10.1007/s00431-024-05690-5
- Citations
- 7
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.64
Funders
- Technion-Israel Institute of Technology