{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:01:58Z","timestamp":1791223318586,"version":"4.1.0"},"reference-count":27,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,7,1]]},"abstract":"<jats:sec>\n                  <jats:title>OBJECTIVE:<\/jats:title>\n                  <jats:p>The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>METHODS:<\/jats:title>\n                  <jats:p>This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS:<\/jats:title>\n                  <jats:p>Fifty patients from 38 different families were identified, including 1 asymptomatic patient. Symptoms began during the first 6 months of life in 30 patients (60%) and before the age of 5 years in 46 patients (92%). Symptoms consisted of febrile diarrhea and\/or rash in 23 of 35 patients (66%). Febrile attacks were mostly associated with lymphadenopathy (71%), diarrhea (69%), joint pain (67%), skin lesions (67%), abdominal pain (63%), and splenomegaly (63%). In addition to febrile attacks, 27 patients presented with inflammatory bowel disease, erosive polyarthritis, Sj\u00f6gren syndrome, and other chronic neurologic, renal, pulmonary, endocrine, cutaneous, hematologic, or ocular symptoms. Recurrent and\/or severe infections were observed in 13 patients, hypogammaglobulinemia in 3 patients, and renal angiomyolipoma in 3 patients. Twenty-nine genomic mutations were identified; the p.Val377Ile mutation was the most frequently found (29 of 38 families). Three patients died of causes related to MKD. The disease remained highly active in 17 of the 31 surviving symptomatic patients followed up for &amp;gt;5 years, whereas disease activity decreased over time in the other 14 patients. Interleukin 1 antagonists were the most effective biological agents tested, leading to complete or partial remission in 9 of 11 patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSION:<\/jats:title>\n                  <jats:p>MKD is not only an autoinflammatory syndrome but also a multisystemic inflammatory disorder, a possible immunodeficiency disorder, and a condition that predisposes patients to the development of renal angiomyolipoma.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1542\/peds.2010-3639","type":"journal-article","created":{"date-parts":[[2011,6,28]],"date-time":"2011-06-28T07:43:14Z","timestamp":1309246994000},"page":"e152-e159","source":"Crossref","is-referenced-by-count":199,"title":["Mevalonate Kinase Deficiency: A Survey of 50 Patients"],"prefix":"10.1542","volume":"128","author":[{"given":"Brigitte","family":"Bader-Meunier","sequence":"first","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology, Necker Hospital,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Florkin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology, Necker Hospital,"},{"name":"Department of Pediatrics, Citadelle Hospital, Li\u00e8ge, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Sibilia","sequence":"additional","affiliation":[{"name":"Departments of Rheumatology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Acquaviva","sequence":"additional","affiliation":[{"name":"Inborn Errors of Metabolism Laboratory, Civil Hospital of Lyon, Bron, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Hachulla","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Claude Huriez Hospital, Lille, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Grateau","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Tenon Hospital, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Richer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pellegrin Hospital, Bordeaux, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire Mich\u00e8le","family":"Farber","sequence":"additional","affiliation":[{"name":"Immune Deficiencies Treatment Unit, Erasme Hospital, Brussels, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Fischbach","sequence":"additional","affiliation":[{"name":"Pediatrics, Hautepierre Hospital, Strasbourg, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Hentgen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mignot Hospital, Versailles, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Jego","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Rennes Hospital, Rennes, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Laroche","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dupuytren Hospital, Limoges, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Neven","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology, Necker Hospital,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Lequerr\u00e9","sequence":"additional","affiliation":[{"name":"Rheumatology Department, Charles Nicole Hospital, Rouen, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Mathian","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Piti\u00e9-Salpetri\u00e8re Hospital, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Pellier","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Angers Hospital, Anger, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Touitou","sequence":"additional","affiliation":[{"name":"Autoinflammatory Diseases Medical Unit, Arnaud Villeuneuve Hospital, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Rabier","sequence":"additional","affiliation":[{"name":"Metabolic Biochemistry Unit, Necker Enfants Malades Hospital, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Prieur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology, Necker Hospital,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Cuisset","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Biochemistry Laboratory, Cochin Hospital and Institute, AP-HP and University Paris Descartes, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Quartier","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology, Necker Hospital,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the SOFREMIP (Soci\u00e9t\u00e9 Francophone pour la Rhumatologie et les Maladies Inflammatoires en P\u00e9diatrie) and CRI (Club Rhumatismes et Inflammations)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2011,7,1]]},"reference":[{"key":"2021120823590411600_B1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-1-13","article-title":"Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome","volume":"1","author":"Haas","year":"2006","journal-title":"Orphanet J Rare Dis"},{"issue":"8","key":"2021120823590411600_B2","first-page":"565","article-title":"Nosologic aspect of systemic forms of very early onset juvenile arthritis. 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