Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group

Nature Genetics
J P DrenthM Delpech

Abstract

Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by recurrent episodes of fever accompanied with lymphadenopathy, abdominal distress, joint involvement and skin lesions. All patients have high serum IgD values (>100 U/ml) and HIDS 'attacks' are associated with an intense acute phase reaction whose exact pathophysiology remains obscure. Two other hereditary febrile disorders have been described. Familial Mediterranean fever (MIM 249100) is an autosomal recessive disorder affecting mostly populations from the Mediterranean basin and is caused by mutations in the gene MEFV (refs 5,6). Familial Hibernian fever (MIM 142680), also known as autosomal dominant familial recurrent fever, is caused by missense mutations in the gene encoding type I tumour necrosis factor receptor. Here we perform a genome-wide search to map the HIDS gene. Haplotype analysis placed the gene at 12q24 between D12S330 and D12S79. We identified the gene MVK, encoding mevalonate kinase (MK, ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36), as a candidate gene. We characterized 3 missense mutations, a 92-bp loss stemming from a deletion or from exon skipping, and...Continue Reading

References

Jun 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J Ott
Jun 19, 1986·The New England Journal of Medicine·G HoffmannL Sweetman
Sep 1, 1995·European Journal of Clinical Investigation·J P DrenthJ W Van der Meer
Feb 28, 1997·The Journal of Biological Chemistry·D PotterH M Miziorko
Sep 1, 1997·Nature Genetics·UNKNOWN French FMF Consortium
Nov 5, 1997·The Journal of Biological Chemistry·D Potter, H M Miziorko
Jun 19, 1998·American Journal of Human Genetics·M F McDermottG A Hitman

❮ Previous
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Citations

Nov 12, 2005·Rheumatology International·Fatos Onen
Mar 17, 2005·European Journal of Pediatrics·Sven ArmbrustSiegfried K W Wiersbitzky
Mar 2, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Yelda BilginerSeza Ozen
Oct 23, 2008·Modern Rheumatology·Takuya NarutoShumpei Yokota
Feb 9, 2010·Modern Rheumatology·Tetsuo Kubota, Ryuji Koike
May 9, 2012·Journal of Clinical Immunology·Adriana A JesusJoao B Oliveira
Nov 2, 2013·Journal of Clinical Immunology·Nima ParvanehIsabelle Touitou
Nov 1, 2012·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Robert van der BurghJoost Frenkel
Jan 3, 2003·Protein Expression and Purification·Xiusheng Chu, Ding Li
Dec 19, 2003·Protein Expression and Purification·Xiusheng Chu, Ding Li
Dec 9, 2000·Biochimica Et Biophysica Acta·H R Waterham, R J Wanders
Dec 20, 2002·Nature·Carl Nathan
May 5, 2009·Nature Reviews. Rheumatology·Hal M Hoffman, Anna Simon
Jul 6, 2011·Nature Reviews. Rheumatology·Ivona Aksentijevich, Daniel L Kastner
Mar 29, 2000·Scandinavian Journal of Immunology·A HaraldssonI Klasen
May 2, 2002·Pediatrics International : Official Journal of the Japan Pediatric Society·Kayoko Yoshimura, Hiroshi Wakiguchi
Aug 14, 2003·Annals of Human Genetics·P E JiraR A Wevers
Jun 29, 2007·The New England Journal of Medicine·Bénédicte NevenAlain Fischer
Dec 14, 2001·The New England Journal of Medicine·J P Drenth, J W van der Meer
Jan 31, 2008·Proceedings of the National Academy of Sciences of the United States of America·I JéruS Amselem
Feb 8, 2011·The Journal of Biological Chemistry·Hal M Hoffman, Susannah D Brydges
Sep 9, 2004·The Journal of Experimental Medicine·Christian Stehlik, John C Reed
Jan 10, 2003·Nucleic Acids Research·Cyril Sarrauste de MenthièreIsabelle Touitou
Oct 20, 2009·Rheumatology·Eldad Ben-ChetritSamuel N Heyman
Jan 27, 2000·Current Opinion in Rheumatology·G Grateau
Sep 16, 2000·Current Opinion in Rheumatology·H A Majeed
Aug 10, 1999·Current Opinion in Pediatrics·J M Opitz
Dec 6, 2000·Current Opinion in Pediatrics·P R Scholl
Aug 12, 2005·Current Opinion in Rheumatology·Silvia Stojanov, Daniel L Kastner
Jul 31, 2010·Current Opinion in Rheumatology·Cailin Henderson, Raphaela Goldbach-Mansky
Nov 18, 2011·Current Opinion in Rheumatology·Sinisa SavicMichael F McDermott
Jul 27, 2012·Current Opinion in Rheumatology·James W Verbsky
Nov 18, 2008·Medicine·Jeroen C H van der HilstUNKNOWN International HIDS Study Group
Oct 23, 2010·Current Opinion in Pediatrics·Marco Gattorno, Alberto Martini
Jul 5, 2013·Pediatric Emergency Care·Alex KoyfmanVincent W Chiang
Feb 12, 2004·Kidney International·Seza Ozen
Apr 5, 2005·Pediatric Dermatology·Jonathan E Wickiser, Frank T Saulsbury
May 6, 2011·Science Translational Medicine·Seth L MastersLuke A J O'Neill
Mar 7, 2000·Clinical and Diagnostic Laboratory Immunology·A O Vladutiu

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