References
Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, Richer O, Farber CM, Fischbach M, Hentgen V, Jego P, Laroche C, Neven B, Lequerré T, Mathian A, Pellier I, Touitou I, Rabier D, Prieur AM, Cuisset L, Quartier P (2011) Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 128(1):152–159
Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91:915–921
Galeotti C, Meinzer U, Quartier P, Rossi-Semerano L, Bader-Meunier B, Pillet P, Koné-Paut I (2012) Efficacy of interleukin-1-targeting drugs inmevalonate kinase deficiency. Rheumatology 51:1855–1859
Toplak N, Frenkel J, Ozen S, Lachmann HJ, Woo P, Koné-Paut I, De Benedetti F, Neven B, Hofer M, Dolezalova P, Kümmerle-Deschner J, Touitou I, Hentgen V, Simon A, Girschick H, Rose C, Wouters C, Vesely R, Arostegui J, Stojanov S, Ozgodan H, Martini A, Ruperto N, Gattorno M (2012) An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis 71:1177–1182
Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A (2007) Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med 356(26):2700–2703
Infevers: an online database for autoinflammatory mutations. http://fmf.igh.cnrs.fr/ISSAID/infevers/. Accessed 11 Nov 2015
PolyPhen-2: prediction of functional effects of human nsSNPs. http://genetics.bwh.harvard.edu/cgi-bin/pph2/dbsearch.cgi. Accessed 11 Nov 2015
Arkwright PD, Abinun M, Cant AJ (2007) Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med 357(13):1350
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest. The authors also declare that no funding, grants, or equipment were provided for the manuscript from any source. The manuscript was not presented previously in any form.
Human and animal rights and informed consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Written informed consent was obtained from the parents of the patient prior to inclusion in the study.
Rights and permissions
About this article
Cite this article
Erdol, S., Cekic, S., Kılıc, S.C. et al. Massive ascites in a canakinumab resistant case with MVA leading to bone marrow transplantation. Rheumatol Int 36, 1011–1013 (2016). https://doi.org/10.1007/s00296-016-3456-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00296-016-3456-9