The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever
The presence of pathogenic or likely pathogenic homozygous or compound heterozygous mutations in exon 10 of the MEFV gene in patients with early-onset disease is associated with a more severe disease course compared to patients with heterozygous mutations. The gene dose effect of the number of mutations on disease severity is more common in children aged 6-11 years.
Authors
- Vildan Güngörer (ORCID: https://orcid.org/0000-0002-9838-2603)
- Elif Çelikel (ORCID: https://orcid.org/0000-0003-0129-4410)
- Cüneyt Karagöl (ORCID: https://orcid.org/0000-0002-2987-1980)
- Melike Mehveş Kaplan (ORCID: https://orcid.org/0000-0002-8012-2774)
- Banu Çelikel Acar (ORCID: https://orcid.org/0000-0002-1808-3655)
- Zahide Ekici Tekin (ORCID: https://orcid.org/0000-0002-5446-667X)
- Merve Cansu Polat (ORCID: https://orcid.org/0000-0003-3279-8435)
- Nimet Öner (ORCID: https://orcid.org/0000-0003-0403-151X)
- Nilüfer Tekgöz (ORCID: https://orcid.org/0000-0002-2235-4489)
- Serdar Sezer (ORCID: https://orcid.org/0000-0001-5401-5599)
- Emine Özçelik (ORCID: https://orcid.org/0000-0003-4619-8342)
- Mehveş Işıklar Ekici (ORCID: https://orcid.org/0009-0008-7942-3714)
- Yasemin Uğur Es (ORCID: https://orcid.org/0000-0002-3691-8708)
- Didem Öztürk (ORCID: https://orcid.org/0000-0002-9911-9225)
Institutions
- Ankara University (TR)
- Bilkent University (TR)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Postgraduate Medicine
- Published
- 2024-12-18
- DOI
- https://doi.org/10.1080/00325481.2024.2444870
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00