{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T10:26:12Z","timestamp":1761128772919},"reference-count":18,"publisher":"The Journal of Rheumatology","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:sec><jats:title>Objective.<\/jats:title><jats:p>The hyperimmunoglobulin D syndrome (HIDS) is an autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase gene. Our objective was to define a clinical criterion able to exclude HIDS without the need of genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods.<\/jats:title><jats:p>A recursive partitioning algorithm was applied to derive the clinical criterion in 149 patients with genetic testing in a French laboratory, among whom 35 had HIDS. The criterion was validated in 93 patients with genetic testing in a Dutch laboratory, among whom 28 had HIDS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results.<\/jats:title><jats:p>The most discriminatory composite clinical criterion satisfied by all patients with HIDS in the derivation group was [onset age &lt; 5 years old OR (joint pain during attacks AND length of attacks &lt; 14 days)]. It had a sensitivity of 100% (95% confidence interval 88% to 100%) and a specificity of 28% (95% CI 17% to 40%) in the validation group. If genetic testing had been limited to patients fulfilling this criterion, 18 tests (19%) would have been avoided in this highly selected validation sample, without missing a single patient with HIDS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion.<\/jats:title><jats:p>Even among patients already selected by expert physicians, this criterion could help prevent unnecessary genetic testing, which is resource- and time-consuming.<\/jats:p><\/jats:sec>","DOI":"10.3899\/jrheum.081313","type":"journal-article","created":{"date-parts":[[2009,6,17]],"date-time":"2009-06-17T02:00:51Z","timestamp":1245204051000},"page":"1677-1681","source":"Crossref","is-referenced-by-count":39,"title":["A Clinical Criterion to Exclude the Hyperimmunoglobulin D Syndrome (Mild Mevalonate Kinase Deficiency) in Patients with Recurrent Fever"],"prefix":"10.3899","volume":"36","author":[{"given":"OLIVIER","family":"STEICHEN","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JEROEN","family":"van der HILST","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ANNA","family":"SIMON","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LAURENCE","family":"CUISSET","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"GILLES","family":"GRATEAU","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2262","published-online":{"date-parts":[[2009,6,16]]},"reference":[{"key":"2018112909205144000_36.8.1677.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra010200"},{"key":"2018112909205144000_36.8.1677.2","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1097\/00005792-199405000-00002","article-title":"Hyperimmunoglobulinemia D and periodic fever syndrome. 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