Allogeneic bone marrow transplantation in mevalonic aciduria

New England Journal of Medicine

Volumn 356, Issue 26, 2007, Pages 2700-2703

  Neven, Bénédicte ^a,b   Valayannopoulos, Vassili ^a   Quartier, Pierre ^a,b   Blanche, Stéphane ^a   Prieur, Anne Marie ^a   Debré, Marianne ^a   Rolland, Marie Odile ^d   Rabier, Daniel ^a   Cuisset, Laurence ^c   Cavazzana Calvo, Marina ^a   De Lonlay, Pascale ^a   Fischer, Alain ^a,b  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c Hôpital Cochin ^*  (France)

^d HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIINFLAMMATORY AGENT;

ACIDURIA; ALLOGENIC BONE MARROW TRANSPLANTATION; ARTICLE; CASE REPORT; FEVER; HUMAN; INFLAMMATION; MALE; MEVALONIC ACIDURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; REMISSION; TREATMENT FAILURE;

EID: 34347233869     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa070715     Document Type: Article

References (15)

1. Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R. Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin Chim Acta 1985;152:219-22.
2. Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L. Mevalonic aciduria - an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med 1986;314:1610-4.
3. Hoffmann GF, Charpentier C, Mayatepek E, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993;91:915-21.
4. Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N. Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. Pediatr Neurol 1993;9:243-6.
5. Prietsch V, Mayatepek E, Krastel H, et al. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics 2003;111:258-61.
6. Simon A, Kremer HP, Wevers RA, et al. Mevalonate kinase deficiency: evidence for a phenotypic continuum. Neurology 2004;62:994-7.
7. Schafer BL, Bishop RW, Kratunis VJ, et al. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J Biol Chem 1992;267:13229-38.
8. Houten SM, Kuis W, Duran M, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999;22:175-7.
9. Drenth JP, Cuisset L, Grateau G, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999;22:178-81.
10. Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine (Baltimore) 1994;73:133-44.
11. Houten SM, Wanders RJ, Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta 2000;1529:19-32.
12. Cuisset L, Drenth JP, Simon A, et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001;9:260-6.
13. Simon A, Drewe E, van der Meer JW, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004;75:476-83.
14. Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2003;48:2645-51.
15. Frenkel J, Rijkers GT, Mandey SH, et al. Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2002;46:2794-803.