{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T20:09:27Z","timestamp":1772827767332,"version":"3.50.1"},"reference-count":31,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:p>Mevalonate kinase deficiency (MKD) is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype that may be expressed as a spectrum of disease phenotypes, from those with prevailing autoinflammatory syndrome and variable response to anti-inflammatory therapies, to mevalonic aciduria, which is associated with dysmorphic features, severe neurologic involvement, and the worst prognosis. We describe a boy, aged 2 years, 10 months, with severe phenotype of mevalonate kinase deficiency who underwent allogeneic hematopoietic stem cell transplantation (HSCT) from HLA-identical unrelated cord blood because his condition had failed to improve with antiinflammatory treatment as first-line therapy and an anticytokine drug as second-line therapy. The child had a sustained remission of febrile attacks and inflammation after transplant, and during a 5-year follow-up period, psychomotor and neurologic development were normal, without signs of underlying disease or late transplant-related effects. This case confirms that allogeneic HSCT is a safe and effective cure for patients affected by MKD in whom anticytokine drugs alone are insufficient for the management of autoinflammatory syndrome and for the unfavorable outcome of the disease.<\/jats:p>","DOI":"10.1542\/peds.2014-2553","type":"journal-article","created":{"date-parts":[[2014,12,23]],"date-time":"2014-12-23T04:03:17Z","timestamp":1419307397000},"page":"e211-e215","source":"Crossref","is-referenced-by-count":29,"title":["Long-term Outcome of a Successful Cord Blood Stem Cell Transplant in Mevalonate Kinase Deficiency"],"prefix":"10.1542","volume":"135","author":[{"given":"Stefano","family":"Giardino","sequence":"first","affiliation":[{"name":"Stem Cell Transplantation Unit, Department of Pediatric Hematology and Oncology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edoardo","family":"Lanino","sequence":"additional","affiliation":[{"name":"Stem Cell Transplantation Unit, Department of Pediatric Hematology and Oncology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Morreale","sequence":"additional","affiliation":[{"name":"Stem Cell Transplantation Unit, Department of Pediatric Hematology and Oncology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annalisa","family":"Madeo","sequence":"additional","affiliation":[{"name":"Reumatology Unit and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Rare Diseases Unit, Department of Paediatrics, Istituto G. 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