{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T00:03:14Z","timestamp":1770336194013,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,10,20]],"date-time":"2015-10-20T00:00:00Z","timestamp":1445299200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The cause and pathophysiology of <jats:styled-content style=\"fixed-case\">PFAPA<\/jats:styled-content> syndrome is unknown. The aim of this study was to determine all <jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content> gene variants relevant to familial Mediterranean fever in children with <jats:styled-content style=\"fixed-case\">PFAPA<\/jats:styled-content> syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All <jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content> gene variants were analyzed in patients with <jats:styled-content style=\"fixed-case\">PFAPA<\/jats:styled-content> syndrome. All patients were evaluated using the Gaslini scoring system. Serum immunoglobulin levels were also determined upon admission.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We evaluated 64 patients with <jats:styled-content style=\"fixed-case\">PFAPA<\/jats:styled-content> syndrome. The median age at diagnosis was 37.5 (min\u2013max: 6\u201396) months, and the percentage of male patients was 55.0%. The Gaslini diagnostic score for periodic fever was high in 81.0% of the patients. An <jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content> gene mutation was found in 42 (66.0%) children. Mostly, heterozygous or compound heterozygous variants of the <jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content> gene were found. Two patients were homozygous for R202Q. <jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content> gene mutations were not detected in 22 (34.0%) patients. No significant differences in clinical or laboratory findings were observed between the two groups (p\u00a0&gt;\u00a00.05), and there were no significant differences in period and duration of the fever episodes (p\u00a0&gt;\u00a00.05). The fever of all 47 patients (100.0%) who received prednisolone during the episodes decreased within hours and did not recur. Eighteen of the patients using prednisolone underwent prophylaxis with colchicine, and the fever episodes of 9\/18 (50.0%) patients using colchicine decreased within months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Most patients presenting with <jats:styled-content style=\"fixed-case\">PFAPA<\/jats:styled-content> syndrome have heterozygous <jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content> gene mutations. Whether carrying a heterozygous <jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content> gene is the primary cause of this syndrome requires further investigation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pai.12490","type":"journal-article","created":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T14:36:39Z","timestamp":1441982199000},"page":"78-82","source":"Crossref","is-referenced-by-count":31,"title":["Could familial Mediterranean fever gene mutations be related to <scp>PFAPA<\/scp> syndrome?"],"prefix":"10.1111","volume":"27","author":[{"given":"Mehmet H.","family":"Celiksoy","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Pediatric Allergy and Immunology Faculty of Medicine Ondokuz May\u0131s University Samsun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gonul","family":"Ogur","sequence":"additional","affiliation":[{"name":"Department of Genetic Disease Faculty of Medicine Ondokuz May\u0131s University Samsun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elif","family":"Yaman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine Ondokuz May\u0131s University Samsun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ummet","family":"Abur","sequence":"additional","affiliation":[{"name":"Department of Genetic Disease Faculty of Medicine Ondokuz May\u0131s University Samsun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Semanur","family":"Fazla","sequence":"additional","affiliation":[{"name":"Department of Genetic Disease Faculty of Medicine Ondokuz May\u0131s University Samsun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Recep","family":"Sancak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Pediatric Allergy and Immunology Faculty of Medicine Ondokuz May\u0131s University Samsun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alisan","family":"Yildiran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Pediatric Allergy and Immunology Faculty of Medicine Ondokuz May\u0131s University Samsun Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-009-1037-x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80285-8"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.2174\/1874312901307010022"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2012.07.043"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200658"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/17.11.1921"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(03)00259-2"},{"key":"e_1_2_5_9_1","unstructured":"The diagnostic score for periodic fever. 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