{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T23:05:01Z","timestamp":1792710301547,"version":"4.5.0"},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever, serositis (peritonitis, pleuritis, or synovitis), and erysipelas\u2010like erythema. Genetic variants in the\n                    <jats:italic>MEFV<\/jats:italic>\n                    gene are associated with this disease. Familial Mediterranean fever is considered an autosomal recessive disease. However, in Middle Eastern countries, a third of the patients expressing FMF manifestations, carry a single mutation only. Moreover, some cases of pure dominant inheritance linked to specific single\n                    <jats:italic>MEFV<\/jats:italic>\n                    variants have also been described. This complex inheritance of\n                    <jats:italic>MEFV<\/jats:italic>\n                    \u2010associated inflammatory diseases poses a serious challenge when interpreting the results of genetic testing in patients having recurrent fever syndromes. In addition, in certain situations, asymptomatic individuals may be incidentally found to carry\n                    <jats:italic>MEFV<\/jats:italic>\n                    variants. These cases pose the question of their exact diagnosis and whether they should be treated. Previous studies have focused on genetic results interpretations among symptomatic patients. In the current article, we would like to elaborate on the genetic interpretation in cases of symptomatic individuals suspected to have FMF and on asymptomatic individuals carrying\n                    <jats:italic>MEFV<\/jats:italic>\n                    variants. We aim to assist physicians unfamiliar with FMF to cope with genetic results interpretation when facing symptomatic and asymptomatic individuals carrying\n                    <jats:italic>MEFV<\/jats:italic>\n                    variants and suggest a management plan accordingly.\n                  <\/jats:p>","DOI":"10.1111\/cge.14566","type":"journal-article","created":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T03:49:13Z","timestamp":1717127353000},"page":"217-223","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["The significance of carrying\n                    <i>MEFV<\/i>\n                    variants in symptomatic and asymptomatic individuals"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8520-5045","authenticated-orcid":false,"given":"Eldad","family":"Ben\u2010Chetrit","sequence":"first","affiliation":[{"name":"Rheumatology Unit, Department of Medicine Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5171-1000","authenticated-orcid":false,"given":"Isabelle","family":"Touitou","sequence":"additional","affiliation":[{"name":"CEREMAIA, Department of Genetics CHU of Montpellier, INSERM, University of Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,31]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)09408-7"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.4274\/balkanmedj.galenos.2020.2020.4.82"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.5152\/TurkArchPediatr.2021.21147"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197212212872514"},{"key":"e_1_2_10_6_1","first-page":"44","article-title":"A new approach to the treatment of 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