Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome

Arthritis and Rheumatism

Volumn 48, Issue 9, 2003, Pages 2645-2651

  Takada, Kazuki ^a   Aksentijevich, Ivona ^a   Mahadevan, Vijayabhanu ^a   Dean, Jane A ^a   Kelley, Richard I ^b   Kastner, Daniel L ^a  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; ETANERCEPT; IMMUNOGLOBULIN D; ISOPRENOID; MEVALONATE KINASE; PHOSPHOTRANSFERASE; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ARTHRALGIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DRUG EFFECT; EXON; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; GENE MUTATION; HUMAN; HYPERIMMUNOGLOBULINEMIA; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; MISSENSE MUTATION; PERIODIC FEVER SYNDROME; PRIORITY JOURNAL; RASH; RECURRENT DISEASE; SYMPTOMATOLOGY; TREATMENT OUTCOME; URINE LEVEL;

ANTIGENS, CD; CHILD; CYTOKINES; CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN D; IMMUNOGLOBULIN G; IMMUNOSUPPRESSIVE AGENTS; PERIODICITY; PROTEINS; RECEPTORS, TUMOR NECROSIS FACTOR; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I;

EID: 0141453408     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.11218     Document Type: Article

References (13)

1. Drenth JPH, van der Meer JW. Hereditary periodic fever. N Engl J Med 2001;345:1748-57.
2. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhol A, Romeijn G, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinemia D and periodic fever syndrome. Nature Genet 1999;22:175-7.
3. Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Joong JGN, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nature Genet 1999;22:178-81.
4. Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993;91:915-21.
5. Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, et al. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet 2001;9:253-9.
6. Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, 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.
7. Drenth JPH, van Deuren M, van der Velde Visser S, Schalkwijk CG, van der Meer JW. Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood 1995;85:3586-93.
8. Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999;64:949-62.
9. Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001;69:301-14.
10. Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002;130:484-8.
11. Houten SM, Frenkel J, Rijkers GT, Wanders RJ, Kuis W, Waterham HR. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 2002;11:3115-24.
12. Sinensky M. Recent advances in the study of prenylated proteins. Biochim Biophys Acta 2000;1484:93-106.
13. Frenkel J, Rijkers GT, Mandey SH, Buurman SW, Houten SM, Wanders RJ, et al. Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2002;46:2794-803.