ArticleRheumatology international2013
Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms.
Article in Rheumatology international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- The genetics of Henoch-Schönlein purpura: a systematic review and meta-analysis.Rheumatology international · 2013Pooled it
- Impact of MEFV mutations on inflammatory activity and long-term relapse in pediatric IgA vasculitis.BMC pediatrics · 2026Article
- The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.Nature reviews. Rheumatology · 2025Review
- IgA Vasculitis in Japanese Patients Harboring MEFV Mutations: A Case Report and Review of the Literature.Cureus · 2023Article
- IgA vasculitis update: Epidemiology, pathogenesis, and biomarkers.Frontiers in immunology · 2022Review
- Pathogenesis of IgA Vasculitis: An Up-To-Date Review.Frontiers in immunology · 2021Review
- Familial Mediterranean fever: What associations to screen for?Reumatologia · 2020Review
- MEFV gene mutations in children with Henoch-Schönlein purpura and their correlations-do mutations matter?Clinical rheumatology · 2019Article
- The Influence of Concomitant Disorders on Disease Severity of Familial Mediterranean Fever in Children.Archives of rheumatology · 2018Article
- Vasculitis in Systemic Autoinflammatory Diseases.Frontiers in pediatrics · 2018Review
- Efficacy of colchicine in a child with relapsing bullous Henoch-Schönlein purpura.European journal of pediatrics · 2016Article
- Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.Pediatric rheumatology online journal · 2015Article
- Non-canonical manifestations of familial Mediterranean fever: a changing paradigm.Clinical rheumatology · 2015Review
- MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.Pediatric rheumatology online journal · 2014Article
- MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.European journal of pediatrics · 2013Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Mediterranean fever (FMF) has been reported more frequently in patients presenting with Henoch-Schönlein purpura (HSP) than in the general population. But, there is no clear knowledge about MEFV mutations in patients with HSP. We investigated the prevalence of MEFV mutations in children with HSP and without FMF whether these mutations have any effect on the disease course or complications. A total of 76 children with HSP who had no typical symptoms of FMF were screened for the mutations in exon 2 and exon 10 of the MEFV gene. Eleven of 76 patients (14.4 %) were heterozygous (E148Q in 5, M694V in 4, M680I in 1, E148V in 1), 5 (6.6 %) were homozygous (M694V/M694V in 4, V726A/V726A in 1), and 2 (2.6 %) were compound heterozygous (E148Q/M694V mutations in 1 and L110P/E148Q mutations in 1). Altogether, 7 patients carried 2 mutated MEFV alleles (9.2 %), which was higher than that observed in the general Turkish population (1 %). No significant differences in joint, gastrointestinal, renal involvement, or subcutaneous edema, and also acute phase reactants including leukocyte count, erythrocyte sedimentation rate, and serum C-reactive protein concentration were found between the groups. The prevalence of the two allele-MEFV mutations in patients with HSP was found higher than that of the general population. However, it seems that MEFV gene mutations may not have any effect on the clinical presentation of HSP.
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