{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T23:27:37Z","timestamp":1772234857141,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T00:00:00Z","timestamp":1369267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>Coexistence of familial <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>editerranean fever (<jats:styled-content style=\"fixed-case\">FMF<\/jats:styled-content>) with various systemic vasculitides, including <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>enoch\u2013<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>ch\u00f6nlein purpura (<jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>) and other inflammatory disorders has been reported and the <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> gene has been suggested to play an important role in the pathogenesis of this association. In the present study, the mutation rate of the <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> gene in <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content> and its association with the clinical course of the disease were evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>The study group comprised 68 children (36 boys and 32 girls) diagnosed as having <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>. The spectrum and degree of organ involvement and the levels of serum <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>\u2010reactive protein (<jats:styled-content style=\"fixed-case\">CRP<\/jats:styled-content>) and erythrocyte sedimentation rate (<jats:styled-content style=\"fixed-case\">ESR<\/jats:styled-content>) were documented for each patient. Allele\u2010specific <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> using oligonucleotide probes which include 12 <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> mutations (<jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>148<jats:styled-content style=\"fixed-case\">Q<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> P<\/jats:styled-content>369<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> F<\/jats:styled-content>479<jats:styled-content style=\"fixed-case\">L<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> M<\/jats:styled-content>680I [<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>], <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>680<jats:styled-content style=\"fixed-case\">I<\/jats:styled-content> [<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>], <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>692del, <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>694<jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> M<\/jats:styled-content>694<jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> K<\/jats:styled-content>695<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> V<\/jats:styled-content>726<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> A<\/jats:styled-content>744<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> R<\/jats:styled-content>761<jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>) were used for mutation analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 68 patients studied, 50 (74%) showed no mutation, while 18 (26%) had <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> mutation. Mutation analysis of the whole group revealed that 15 (22%) patients were heterozygous for one of the screened <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> mutations, while three (4.5%) patients were compound heterozygous for two of the studied mutations, and one (1.5%) patient was homozygous for <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>148<jats:styled-content style=\"fixed-case\">Q<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>148<jats:styled-content style=\"fixed-case\">Q<\/jats:styled-content> mutations. Gastrointestinal and joint involvement, and edema were more frequently observed in patients with <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> mutations, while <jats:styled-content style=\"fixed-case\">ESR<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CRP<\/jats:styled-content> levels were significantly higher (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.05) in patients with <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> mutations, especially, <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>148<jats:styled-content style=\"fixed-case\">Q<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>694<jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>, mutations might be associated with <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content> and may affect clinical presentation and laboratory findings in <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content> patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1756-185x.12072","type":"journal-article","created":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T16:50:32Z","timestamp":1369327832000},"page":"347-351","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["<i><scp>MEFV<\/scp><\/i> gene mutations in <scp>H<\/scp>enoch\u2013<scp>S<\/scp>ch\u00f6nlein purpura"],"prefix":"10.1111","volume":"16","author":[{"given":"Umut","family":"Altug","sequence":"first","affiliation":[{"name":"Department ofPaediatrics Kirirkkale University Medical School Ankara 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