{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:47:33Z","timestamp":1791100053918,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,6,3]],"date-time":"2003-06-03T00:00:00Z","timestamp":1054598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"MARAT\u00d3 TV3","award":["003110"],"award-info":[{"award-number":["003110"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring short attacks of fever and serositis. Secondary AA amyloidosis is the worst complication of the disease and often determines the prognosis. The\n                    <jats:italic>MEFV<\/jats:italic>\n                    gene, on chromosome 16p13.3, is responsible for the disease and around 30 mutations have been reported to date. Colchicine is the standard FMF treatment today, and prevents both attacks and amyloid deposition in 95% of patients. Here we describe a three\u2010generation Spanish kindred with five family members affected by a severe periodic inflammatory disorder associated with renal AA amyloidosis and colchicine unresponsiveness. Clinical diagnosis of definite FMF disease was made based on the Tel\u2010Hashomer criteria set. Genetic analyses revealed that all subjects were heterozygous for the new H478Y\n                    <jats:italic>MEFV<\/jats:italic>\n                    variant, segregating with the disease. In addition, mutations in the\n                    <jats:italic>TNFRSF<\/jats:italic>\n                    1A and\n                    <jats:italic>CIAS1\/PYPAF1\/NALP3<\/jats:italic>\n                    genes, related to the dominantly inherited autoinflammatory periodic syndromes, were ruled out. However, the dominant inheritance of the disease, the long fever episodes with a predominant joint involvement, and the resistance to colchicine in these patients raise the question of whether the periodic syndrome seen in this kindred is a true FMF disease with unusual manifestations or rather another\n                    <jats:italic>MEFV<\/jats:italic>\n                    \u2010associated periodic syndrome. We conclude that the new H478Y\n                    <jats:italic>MEFV<\/jats:italic>\n                    mutation is the dominant pathological variant causing the inflammatory periodic syndrome in this kindred and that full\u2010length analyses of the\n                    <jats:italic>MEFV<\/jats:italic>\n                    gene are needed to obtain an adequate diagnosis of patients with clinical suspicion of a hereditary periodic fever syndrome, especially those from non\u2010ancestral populations. \u00a9 2003 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.20296","type":"journal-article","created":{"date-parts":[[2003,12,12]],"date-time":"2003-12-12T04:00:28Z","timestamp":1071201628000},"page":"67-73","source":"Crossref","is-referenced-by-count":84,"title":["A severe autosomal\u2010dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the\n                    <i>MEFV<\/i>\n                    H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another\n                    <i>MEFV<\/i>\n                    \u2010associated periodic inflammatory disorder?"],"prefix":"10.1002","volume":"124A","author":[{"given":"Anna","family":"Aldea","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josep M.","family":"Campistol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan I.","family":"Arostegui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josefa","family":"Rius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Maso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Vives","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Yag\u00fce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,6,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.10509"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199908193410808"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0049-0172(98)80028-0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.8.1317"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/91.9.603"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/93.4.217"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302459"},{"key":"e_1_2_6_9_1","first-page":"1136","article-title":"Identification of MEFV\u2010independent modifying genetic factors for familial Mediterranean fever","volume":"67","author":"Cazeneuve C","year":"2000","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002281-200205000-00002"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/340786"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/9696"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200010053431412"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/341357"},{"key":"e_1_2_6_15_1","first-page":"308","article-title":"Male Sex Coupled with Articular Manifestations Cause a 4\u2010fold Increase in Susceptibility to Amyloidosis in Patients with Familial Mediterranean Fever Homozygous for the M694V\u2010MEFV Mutation","volume":"30","author":"Gershoni\u2010Baruch R","year":"2003","journal-title":"J Rheumatol"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/93.4.223"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng756"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/9691"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200209000-00002"},{"key":"e_1_2_6_20_1","first-page":"1558","article-title":"Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: Two diseases with distinct clinical, serologic, and genetic features","volume":"24","author":"Livneh A","year":"1997","journal-title":"J Rheumatol"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80721-7"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(200009)43:9<2034::AID-ANR14>3.0.CO;2-J"},{"key":"e_1_2_6_23_1","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1007\/s004399900150","article-title":"Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA\u2010amyloidosis in patients with rheumatoid arthritis","volume":"105","author":"Moriguchi M","year":"1999","journal-title":"Hum Genet"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.59.10.836"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1080\/030097498440949"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(67)90167-2"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-25"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80539-5"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200658"}],"container-title":["American Journal of Medical Genetics Part 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