Scientific literature on HIDS

Nijmegen periodic fever research group

Hyper-IgD and periodic fever syndrome (HIDS)

Literature on HIDS A-G

References to scientific literature on HIDS, including direct link to abstract in PubMed. This includes references on mevalonate kinase deficiency or classical mevalonic aciduria.

Last update: February 9, 2004

Alfabetic list on first author’s name

A-G

H-P

Q-Z

Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, Hammond LJ, Mirakian RM, Tomlin PI, Vijaydurai PI, and Cant AJ. 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;130:484-488. PubMed ID 12452839.

Aubin F, Humbert P. [Hyper IgD syndrome]. Ann Dermatol Venereol 1996;123:691-693. PubMed ID 9615137.

Bader-Meunier B, Venencie PY, Vieillefond A, Le Touze P, and Dommergues JP. [Hypergammaglobulinemia D and familial urticaria in children]. Ann Dermatol Venereol 1996;123:398-400. PubMed ID 8959065.

Berger R, Smit GP, Schierbeek H, Bijsterveld K, and le Coultre R. Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin Chim Acta 31-10-1985;152:219-222. PubMed ID 4053401.

Boom BW, Daha MR, Vermeer BJ, and van der Meer JW. IgD immune complex vasculitis in a patient with hyperimmunoglobulinemia D and periodic fever. Arch Dermatol 1990;126:1621-1624. PubMed ID 2147822.

Brezniak N, Shtrasburg S, Langevitz P, Livneh A, Drenth JP, Shtrasburg S, and Langevitz P. Serum IgD as a discriminator between the two periodic febrile syndromes hyperimmunoglobulinaemia D syndrome and Behcet's disease. Ann Rheum Dis 1998;57:255-256. PubMed ID 9709186.

Cartier H, Guillet MH, Lemoigne E, Sassolas B, Leroy JP, Mottier D, and Guillet G. Syndrome hyper-IgD ou pseudo-maladie periodique. Manifestations cutanees dans 3 observations. Ann Dermatol Venereol 1996;123:314-321. PubMed ID 8761083.

Cenedella RJ and Sexton PS. Probing cataractogenesis associated with mevalonic aciduria. Curr Eye Res 1998;17:153-158. PubMed ID 9523093.

Centola M, Aksentijevich I, and Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 1998;7:1581-1588. PubMed ID 9735379.

Cho YK, Rios SE, Kim JJ, and Miziorko HM. Investigation of invariant serine/threonine residues in mevalonate kinase. Tests of the functional significance of a proposed substrate binding motif and a site implicated in human inherited disease. J Biol Chem 20-4-2001;276:12573-12578. PubMed ID 11278915.

Chu X and Li D. Expression, purification, and characterization of His20 mutants of rat mevalonate kinase. Protein Expr Purif 2003;32:75-82. PubMed ID 14680942.

Chu X and Li D. Cloning, expression, and purification of His-tagged rat mevalonate kinase. Protein Expr Purif 2003;27:165-170. PubMed ID 12509999.

Cuisset L, Drenth JPH, Simon A, Vincent MF, van dV, V, van der Meer JWM, Grateau G, and Delpech M. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001;9:260-266. PubMed ID 11313769.

Czap C, Ko HK, Eife R, and Belohradsky BH. Periodisches Fieber mit unstillbarem Erbrechen Erster Fallbericht eines Hyper-IgD-Syndroms in Deutschland. Monatsschr Kinderheilkd 1997;145:117-119.

de Hullu JA, Drenth JPH, Struyk AP, and van der Meer JWM. Hyper-IgD syndrome and pregnancy. Eur J Obstet Gynecol Reprod Biol 1996;68:223-225. PubMed ID 8886712.

de Klerk JB, Duran M, Dorland L, Brouwers HA, Bruinvis L, and Ketting D. A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. J Inherit Metab Dis 1988;11 Suppl 2:233-236. PubMed ID 3141709.

Delpech M and Grateau G. Genetically determined recurrent fevers. Curr Opin Immunol 2001;13:539-542. PubMed ID 11544000.

Demonty J and Salmon J. Hyperimmunoglobulinemia D syndrome with periodic fever. Acta Clin Belg 1993;48:135.

Di Rocco M, Caruso U, Waterham HR, Picco P, Loy A, and Wanders RJ. Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D. J Inherit Metab Dis 2001;24:411-412. PubMed ID 11486909.

Dios Garcia-Diaz J and Alvarez-Blanco MJ. Glucocorticoids but not NSAID abort attacks in hyper-IgD and periodic fever syndrome. J Rheumatol 2001;28:925-926. PubMed ID 11327283.

Dios Garcia-Diaz J and Alvarez-Blanco MJ. High IgD could be a nonpathogenetic diagnostic marker of the hyper-IgD and periodic fever syndrome. Ann Allergy Asthma Immunol 2001;86:587. PubMed ID 11379812.

Drenth JP and Prieur AM. Occurrence of arthritis in hyperimmunoglobulinaemia D. Ann Rheum Dis 1993;52:765-766. PubMed ID 8257215.

Drenth JP, Boom BW, Toonstra J, and van der Meer JW. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group. Arch Dermatol 1994;130:59-65. PubMed ID 8285741.

Drenth JP, Denecker NE, Prieur AM, and van der Meer JW. [Hyperimmunoglobulin D syndrome]. Presse Med 1995;24:1211-1213. PubMed ID 7567850.

Drenth JP, Klasen IS, and van der Meer JW. Recognition of IgD and periodic fever. Ann Intern Med 1996;125:518. PubMed ID 8779476.

Drenth JP, Endres S, Belohradsky BH, and van der Meer JW. [The hyper-IgD syndrome]. Dtsch Med Wochenschr 1996;121:1299-1300. PubMed ID 8964204.

Drenth JP and Weemaes CM. First patients with hyperimmunoglobulinemia D syndrome from the United States. Pediatr Infect Dis J 1996;15:924-925. PubMed ID 8895936.

Drenth JPH, Haagsma CJ, and van der Meer JWM. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994;73:133-144. PubMed ID 8190036.

Drenth JPH, Mariman EC, van Der Velde-Visser SD, Ropers HH, and van der Meer JWM. Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group. Hum Genet 1994;94:616-620. PubMed ID 7989036.

Drenth JPH, van Deuren M, van d, V, Schalkwijk CG, and van der Meer JWM. Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood 1995;85:3586-3593. PubMed ID 7780142.

Drenth JPH and Powell RJ. Hyperimmunoglobulinaemia D syndrome. Lancet 1995;345:445-446. PubMed ID 7853961.

Drenth JPH, Powell RJ, Brown NS, and van der Meer JWM. Interferon-gamma and urine neopterin in attacks of the hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Clin Invest 1995;25:683-686. PubMed ID 7498243.

Drenth JPH, Goertz J, Daha MR, and van der Meer JWM. Immunoglobulin D enhances the release of tumor necrosis factor-alpha, and interleukin-1 beta as well as interleukin-1 receptor antagonist from human mononuclear cells. Immunology 1996;88:355-362. PubMed ID 8774350.

Drenth JPH, van der Meer JWM, and Kushner I. Unstimulated peripheral blood mononuclear cells from patients with the hyper-IgD syndrome produce cytokines capable of potent induction of C- reactive protein and serum amyloid A in Hep3B cells. J Immunol 1996;157:400-404. PubMed ID 8683144.

Drenth JPH, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JWM, and Delpech M. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999;22:178-181. PubMed ID 10369262.

Drenth JPH and Powell RJ. Hyper-IgD syndrome and familial Hibernian fever are true periodic fever syndromes. J Pediatr 2000;137:438-439. PubMed ID 10969277.

Drenth JPH and Der Meer JW. Periodic fevers enter the era of molecular diagnosis. BMJ 2000;320:1091-1092. PubMed ID 10775206.

Drenth JPH, Waterham HR, Kuis W, Houten SM, Frenkel J, Wanders RJ, Poll-The BT, and van der Meer JWM. [Identification of the gene for hyper-IgD syndrome: a model of modern genetics]. Ned Tijdschr Geneeskd 2000;144:782-785. PubMed ID 10800545.

Drenth JPH, Vonk AG, Simon A, Powell R, and van der Meer JWM. Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. J Pharmacol Exp Ther 2001;298:1221-1226. PubMed ID 11504824.

Drenth JPH and van der Meer JWM. Hereditary Periodic Fever. N Engl J Med 2001;345:1748-1757. PubMed ID 11742050.

Fadlallah JP, Belmatoug N, Chollet-Martin M, Meyer O, and Kahn MF. Pseudo-maladie périodique avec hyper-IgD. Un nouveau cas. Ann Med Interne (Paris) 1990;141:294-295.

Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Kimpen JL, Duran R, Poll-The BT, and Kuis W. Mevalonate kinase deficiency and Dutch type periodic fever. Clin Exp Rheumatol 2000;18:525-532. PubMed ID 10949735.

Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, and Kuis W. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatology (Oxford) 2001;40:579-584. PubMed ID 11371670.

Frenkel J, Willemsen MA, Weemaes CM, Dorland L, and Mayatepek E. Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome. Arch Dis Child 2001;85:158-159. PubMed ID 11466192.

Frenkel J, Rijkers GT, Mandey SH, Buurman SW, Houten SM, Wanders RJ, Waterham HR, and Kuis W. Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2002;46:2794-2803. PubMed ID 12384940.

Fu Z, Wang M, Potter D, Miziorko HM, and Kim JJ. The Structure of a Binary Complex between a Mammalian Mevalonate Kinase and ATP. Insights into the reaction mechanism and human inherited disease. J Biol Chem 2002;277:18134-18142. PubMed ID 11877411.

Garcia-Diaz JD and Alvarez-Blanco MJ. [Hyperimmunoglobulinemia D and periodic fever syndrome. A phenotypical analysis of a Spanish family]. Med Clin (Barc ) 2000;114:456-459. PubMed ID 10846700.

Gibson KM, Hoffmann G, Nyhan WL, Sweetman L, Berger R, le Coultre R, and Smit GP. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr 1988;148:250-252. PubMed ID 2850914.

Gibson KM, Lohr JL, Broock RL, Hoffmann G, Nyhan WL, Sweetman L, Brandt IK, Wappner RS, and Bader PI. Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria. Enzyme 1989;41:47-55. PubMed ID 2543551.

Gibson KM, Hoffmann G, Schwall A, Broock RL, Aramaki S, Sweetman L, Nyhan WL, Brandt IK, Wappner RS, Lehnert W, and . 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium. J Lipid Res 1990;31:515-521. PubMed ID 2160511.

Gibson KM, Stellaard F, Hoffmann GF, Rating D, Hrebicek M, and Jakobs C. Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. Clin Chim Acta 31-8-1993;217:217-220. PubMed ID 8261631.

Gibson KM, Hoffmann GF, Sweetman L, and Buckingham B. Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria. J Inherit Metab Dis 1997;20:391-394. PubMed ID 9266363.

Grateau G, Drenth JPH, and Delpech M. Hereditary fevers. Curr Opin Rheumatol 1999;11:75-78. PubMed ID 9894634.

Grateau G, Cuisset L, Dode C, and Delpech M. Breakthroughs in the genetics of hereditary fevers. Eur J Int Med 2000;11:242-244.

Grateau G, Cuisset L, Dode C, and Delpech M. [Hereditary intermittent fevers, other than familial Mediterranean fevers]. Rev Prat 2002;52:155-159. PubMed ID 11915559.

Grose C, Schnetzer JR, Ferrante A, and Vladutiu AO. Children with hyperimmunoglobulinemia D and periodic fever syndrome. Pediatr Infect Dis J 1996;15:72-77. PubMed ID 8684881.

Grouteau E, Chaix Y, Graber D, Breton A, Claeyssens S, Kuhlein E, and Carriere JP. [Pseudo-periodic disease with hyperimmunoglobulinemia D: a never-ending story with probable prenatal onset]. Arch Pediatr 1998;5:280-284. PubMed ID 10327995.

Guillet G, Le Ru Y, and Cartier H. [Hyper-IgD syndrome: cutaneous manifestations]. Presse Med 1997;26:1503-1508. PubMed ID 9435852.