A Woman with recurrent "Infections" since birth - A new mevalonate kinase mutation

Acta Clinica Belgica

Volumn 66, Issue 2, 2011, Pages 129-131

  Farber, C M ^a   Wanders, J A W ^b   Goffard, J C ^a   Parma, J ^a  

^a ERASME HOSPITAL   (Belgium)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

HIDS; IgD; Mevalonate Kinase; Recessive; Recurrent fever

Indexed keywords

IMMUNOGLOBULIN D; MEVALONATE KINASE; STEROID; GLUCOCORTICOID; PHOSPHOTRANSFERASE;

ABDOMINAL PAIN; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; IRON DEFICIENCY ANEMIA; MASS SPECTROMETRY; PROTEINURIA; RECURRENT FEVER; RECURRENT INFECTION; SINGLE DRUG DOSE; THROMBOCYTOPENIA; VOMITING; FEVER; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; METABOLISM; MEVALONATE KINASE DEFICIENCY; MUTATION; PATHOPHYSIOLOGY; RECURRENT DISEASE; TREATMENT OUTCOME;

ADULT; FEMALE; FEVER; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; GLUCOCORTICOIDS; HUMANS; IMMUNOGLOBULIN D; MEVALONATE KINASE DEFICIENCY; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMORPHISM, GENETIC; RECURRENCE; TREATMENT OUTCOME;

EID: 79960952098     PISSN: 00015512     EISSN: None     Source Type: Journal    
DOI: 10.2143/ACB.66.2.2062531     Document Type: Article

References (15)

1. Goldfinger S: The inherited Autoinfl ammatory Syndrome: A Decade of Discovery. Trans Am Climatol Assoc 2009; 120: 345-418.
2. Drenth JPH, van der Meer JWM. Hereditary periodic fever. NEJM 2001; 345(24): 1748-1757.
3. Hoffmann GF, Brendel SU, Scharfschwerdt SR, Shin YS, Speidel IM, Gibson KM. Mevalonate Kinase Assay Using DEAE-Cellulose Column Chromatography for 1 St-Trimester Prenatal-Diagnosis and Complementation Analysis in Mevalonic Aciduria. J. of Inher. Metabol. Dis. 1992; 15(5): 738-746.
4. http: //genetics.bwh.harvard.edu/pph/consulted on 13.03.10.
5. Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J. of Rare Dis. 2006; 1.
6. http: //fmf.igh.cnrs.fr/ISSAID/infevers
7. van der Hilst JCH, Bodar EJ, Barron KS et al. Long-Term Follow-Up and Quality of Life in a Series of 103 Patients with Hyperimmunoglobulinemia D Syndrome. Medicine. 2008; 7(6): 301-310.
8. Obici L, Manno C, Muda AO et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthr. and Rheumat.2004; 50(9): 2966-2969. (Pubitemid 39209535)
9. Lachmann HJ, Goodman HJB, Andrews PA et al. AA Amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome - A report of two cases. Arthr. and Rheumat. 2006; 54(6): 2010-2014. (Pubitemid 43877953)
10. Simon A, Drewe E, van der Meer JW Simvastatin treatment for infl ammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin. Pharmacol. & Therap. 2004; 75(5): 476-483. (Pubitemid 38534568)
11. Demirkaya E, Caglar MK, Waterham HR, Topaloglu R, Ozen S. A patient with hyper-IgD syndrome responding to anti-TNF treatment. Clin. Rheumatol. 2007; 26(10): 1757-1759.
12. Rigante D, Ansuini V, Bertoni B et al. Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome. Rheumatol. Intern. 2006; 27(1): 97-100. (Pubitemid 44655757)
13. de Dios Garcia-Diaz J, Alvarez-Blanco MJ. Glucocorticoids but not NSAID abort attacks in hyper-IgD and periodic fever syndrome J Rheumatol. 2001; 28(2): 925-926 (Pubitemid 32246979)
14. Feng, J Zhang Z, Li W et al. Missense Mutations in the MEFV gene Are Associated with fibromyalgia Syndrome and correlate with Elevated IL-1â Plasma Levels. PLos One 2009; 4(12): 1-19
15. Chen K, Xu W, Wilson M, He B et al. Immunoglobulin D enhances immune surveillance by activating anti microbial, proinfl ammatory and B cell-stimulating programs in basophils. Nature Immunol. 2009; 10 (9): 889-900.