{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T06:08:51Z","timestamp":1791094131325,"version":"4.1.0"},"reference-count":13,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,9,1]]},"abstract":"<jats:p>Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene. Hyperimmunoglobulinemia D is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting. Here we report for the first time 2 patients with MKD revealed by severe neonatal colitis. Both patients had chronic bloody diarrhea and failure to thrive; 1 patient since the age of 1 month and the other since the age of 12 days. Total parenteral nutrition was required. A marked elevation of acute phase reactants was present, and no evidence of infection was found. In patient 1, ileocolonoscopy revealed ulcerative colitis at the age of 5 months. Patient 2 suffered from enterocolitis and shock, associated with multiple bowel adhesions at age 5 weeks; the rectosigmoidoscopy showed aphtoid lesions of the sigmoid colon. Pathologic findings of colonic biopsies revealed a dense polymorph inflammatory infiltrate associated with deep ulcerations. Febrile attacks occurred 2 months after the onset of digestive symptoms in patient 1, and at onset of disease in patient 2. Genomic sequencing of the mevalonate kinase gene revealed compound heterozygous mutations in both patients. Anti-interleukin-1 agent produced long-term remission of all digestive features and laboratory parameters. This report emphasizes that MKD may be the cause of severe early-onset inflammatory colitis, and must be considered by physicians, even in the absence of fever, after ruling out infections. Anti-interleukin-1 therapy may result in a dramatic improvement of MKD-related inflammatory bowel disease.<\/jats:p>","DOI":"10.1542\/peds.2012-3344","type":"journal-article","created":{"date-parts":[[2013,8,26]],"date-time":"2013-08-26T20:26:23Z","timestamp":1377548783000},"page":"e779-e783","source":"Crossref","is-referenced-by-count":67,"title":["Severe Early-Onset Colitis Revealing Mevalonate Kinase Deficiency"],"prefix":"10.1542","volume":"132","author":[{"given":"Michael","family":"Levy","sequence":"first","affiliation":[{"name":"Departments of Pediatric Gastroenterology, Assistance Publique-H\u00f4pitaux de Paris, Robert Debr\u00e9 Hospital and University, Paris 19, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Arion","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Pediatric Care Unit, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Berrebi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pathology, Assistance Publique-H\u00f4pitaux de Paris, Robert Debr\u00e9 Hospital and University, Paris 7, Paris, France;"}],"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":"Corinne","family":"Jeanne-Pasquier","sequence":"additional","affiliation":[{"name":"Pathology, Caen Hospital, Caen, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Bader-Meunier","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology, Necker Hospital, APHP, INSERM U768 and Imagine Foundation, Paris, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Jung","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Gastroenterology, Assistance Publique-H\u00f4pitaux de Paris, Robert Debr\u00e9 Hospital and University, Paris 19, Paris, France;"},{"name":"Centre de Recherche Clinique (CRC), Centre Hospitalier Intercommunal de Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2013,9,1]]},"reference":[{"issue":"6","key":"2021120902554169900_B1","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1097\/MD.0b013e318190cfb7","article-title":"Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.","volume":"87","author":"van der Hilst","year":"2008","journal-title":"Medicine 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