ArticleJournal of medical cases2021
M680I/M694V Heterozygous Mutation in Early Onset Familial Mediterranean Fever.
Article in Journal of medical cases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Dilemma between knife and needle for acute abdominal pain in familial Mediterranean fever: Two case reports and literature review.World journal of clinical pediatrics · 2026Article
- Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.Qatar medical journal · 2024Article
- Accuracy of generative artificial intelligence models in differential diagnoses of familial Mediterranean fever and deficiency of Interleukin-1 receptor antagonist.Journal of translational autoimmunity · 2023Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder affecting individuals with biallelic pathogenic mutations in the MEFV gene. The disease is characterized by recurrent attacks of fever and serosal inflammation as manifested by abdominal and chest pain. This case report presents an FMF case with a 3-year history of pain crises consisting of severe abdominal pain and fever, lasting up to 72 h. Genetic investigation identified an uncommon heterozygous mutation in the MEFV gene. This mutation is associated with a more severe phenotype of FMF and may lead to an early onset of the disease.
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