Scientific literature on HIDS

Nijmegen periodic fever research group

Hyper-IgD and periodic fever syndrome (HIDS)

Literature on HIDS H-P

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

Haas D, Kelley RI, and Hoffmann GF. Inherited disorders of cholesterol biosynthesis. Neuropediatrics 2001;32:113-122. PubMed ID 11521206.

Haraldsson A, Weemaes CM, de Boer AW, Bakkeren JA, and Stoelinga GB. Immunological studies in the hyper-immunoglobulin D syndrome. J Clin Immunol 1992;12:424-428. PubMed ID 1287034.

Haraldsson A, Weemaes CM, de Boer AW, and Bakkeren JA. Clinical and immunological follow-up in children with hyper-IgD syndrome. Immunodeficiency 1993;4:63-65. PubMed ID 8167736.

Haraldsson A, Weemaes CM, Jonasdottir S, Olafsson O, Van De WG, Goertz J, and Klasen I. Serum immunoglobulinD in infants and children. Scand J Immunol 2000;51:415-418. PubMed ID 10736115.

Havenaar EC, Drenth JP, van Ommen EC, van der Meer JW, and van Dijk W. Elevated serum level and altered glycosylation of alpha 1-acid glycoprotein in hyperimmunoglobulinemia D and periodic fever syndrome: evidence for persistent inflammation. Clin Immunol Immunopathol 1995;76:279-284. PubMed ID 7554449.

Hayem F. [Periodic fevers]. Arch Pediatr 2002;9:638-643. PubMed ID 12108320.

Hiemstra I, Vossen JM, van der Meer JW, Weemaes CM, Out TA, and Zegers BJ. Clinical and immunological studies in patients with an increased serum IgD level. J Clin Immunol 1989;9:393-400. PubMed ID 2695540.

Hinson DD, Chambliss KL, Hoffmann GF, Krisans S, Keller RK, and Gibson KM. Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency. J Biol Chem 17-10-1997;272:26756-26760. PubMed ID 9334262.

Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschutter A, Kelley RI, and Gibson KM. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. Am J Med Genet 6-8-1998;78:408-412. PubMed ID 9714005.

Hinson DD, Ross RM, Krisans S, Shaw JL, Kozich V, Rolland MO, Divry P, Mancini J, Hoffmann GF, and Gibson KM. Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet 1999;65:327-335. PubMed ID 10417275.

Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, and Sweetman L. Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med 19-6-1986;314:1610-1614. PubMed ID 3012338.

Hoffmann G, Gibson KM, Nyhan WL, and Sweetman L. Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts. J Inherit Metab Dis 1988;11 Suppl 2:229-232. PubMed ID 2846965.

Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyanek J, Kozich V, Lehnert W, Nyhan WL, Speidel I, Trefz FK, and . Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta 15-5-1991;198:209-227. PubMed ID 1653652.

Hoffmann GF, Brendel SU, Scharfschwerdt SR, Shin YS, Speidel IM, and Gibson KM. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J Inherit Metab Dis 1992;15:738-746. PubMed ID 1331607.

Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, and . Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993;91:915-921. PubMed ID 8386351.

Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, and Rating D. Neurological manifestations of organic acid disorders. Eur J Pediatr 1994;153:S94-100. PubMed ID 7957396.

Hoffmann GF, Wiesmann UN, Brendel S, Keller RK, and Gibson KM. Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency. Pediatr Res 1997;41:541-546. PubMed ID 9098857.

Houten SM, Kuis W, Duran M, de Koning TJ, Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, and Poll-The BT. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999;22:175-177. PubMed ID 10369261.

Houten SM, Wanders RJ, and Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta 2000;1529:19-32. PubMed ID 11111075.

Houten SM, Frenkel J, Kuis W, Wanders RJ, Poll-The BT, and Waterham HR. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene. J Inherit Metab Dis 2000;23:367-370. PubMed ID 10896296.

Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, and Waterham HR. 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;9:253-259. PubMed ID 11313768.

Houten SM, Koster J, Romeijn GJ, Wanders RJ, and Waterham HR. Biochemical and molecular diagnosis of isoprenoid biosynthesis defects: mevalonic aciduria and hyper-IgD and periodic fever syndrome. Ned Tijdschr Klin Chem 2001;26:104.

Houten SM, Frenkel J, Rijkers GT, Wanders RJ, Kuis W, and Waterham HR. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 1-12-2002;11:3115-3124. PubMed ID 12444096.

Houten SM, Frenkel J, and Waterham HR. Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci 2003;60:1118-1134. PubMed ID 12861380.

Houten SM, Schneiders MS, Wanders RJ, and Waterham HR. Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. J Biol Chem 21-2-2003;278:5736-5743.

Houten SM, Van Woerden CS, Wijburg FA, Wanders RJ, and Waterham HR. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 2003;11:196-200. PubMed ID 12634869.

Jilek D. [The hyperimmunoglobulinemia D syndrome]. Cas Lek Cesk 1991;130:305. PubMed ID 2044140.

Keller RK and Simonet WS. Near normal levels of isoprenoid lipids in severe mevalonic aciduria. Biochem Biophys Res Commun 29-4-1988;152:857-861. PubMed ID 3365255.

Kelley RI and Herman GE. Inborn errors of sterol biosynthesis. Annu Rev Genomics Hum Genet 2001;2:299-341. PubMed ID 11701653.

Kelley RI and Takada I. Hereditary periodic fever. N Engl J Med 2-5-2002;346:1415-1416. PubMed ID 11987326.

Klasen IS, Goertz JH, van de Wiel GA, Weemaes CM, van der Meer JWM, and Drenth JPH. Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome. Clin Diagn Lab Immunol 2001;8:58-61. PubMed ID 11139196.

Kozich V, Gibson KM, Zeman J, Nemecek J, Hoffman GF, Pehal F, Hyanek J, Grosmanova A, and Verner P. Mevalonic aciduria. J Inherit Metab Dis 1991;14:265-266. PubMed ID 1653382.

Livneh A and Langevitz P. [Hyperimmunoglobulinemia D--a new periodic syndrome with features simulating familial Mediterranean fever]. Harefuah 1996;131:283-284. PubMed ID 8940530.

Livneh A, Drenth JPH, Klasen IS, Langevitz P, George J, Shelton DA, Gumucio DL, Pras E, Kastner DL, Pras M, and van der Meer JWM. Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features. J Rheumatol 1997;24:1558-1563. PubMed ID 9263151.

Loeliger AE, Kruize AA, Bijilsma JW, Loeliger AE, and Derksen RH. Arthritis in hyperimmunoglobulinaemia D. Ann Rheum Dis 1993;52:81. PubMed ID 8427522.

Majeed HA. Differential diagnosis of fever of unknown origin in children. Curr Opin Rheumatol 2000;12:439-444. PubMed ID 10990183.

Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, and Pinsard N. Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. Pediatr Neurol 1993;9:243-246. PubMed ID 8352861.

Martinez-Montero E, Calero-Garcia JL, Moruno-Tirado A, Picchi-Rodriguez F, Luque-Hinojosa C, and Navarro-Gonzalez J. [Periodic fever syndrome caused by hyperimmunoglobulinemia D in a child]. Revista Espanola de Pediatria 1996;52:171-174.

Mayatepek E, Hoffmann GF, and Bremer HJ. Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency. J Pediatr 1993;123:96-98. PubMed ID 8391572.

Mayatepek E, Tiepelmann B, and Hoffmann GF. Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes. J Inherit Metab Dis 1997;20:721-722. PubMed ID 9323576.

McDermott MF and Frenkel J. Hereditary periodic fever syndromes. Neth J Med 2001;59:118-125. PubMed ID 11583827.

McDermott MF. Genetic clues to understanding periodic fevers, and possible therapies. Trends Mol Med 2002;8:550-554. PubMed ID 12470987.

Medrano S, I and Bruscas IC. [Hypergammaglobulinemia D syndrome]. An Med Interna 2000;17:213-216. PubMed ID 10893775.

Miyagawa S, Kitamura W, Morita K, Saishin M, and Shirai T. Association of hyperimmunoglobulinaemia D syndrome with erythema elevatum diutinum. Br J Dermatol 1993;128:572-574. PubMed ID 8504052.

Mongil R, I and Canduela M, V. [Periodic fever]. An Esp Pediatr 2002;57:334-344. PubMed ID 12392668.

Morand C, Bressollette L, Mottier D, Granier H, Roegel JC, and Dien G. Pseudo-maladie périodique à hyper-IgD. Ann Med Interne (Paris) 1993;144:293-294. PubMed ID 8368724.

Nimubona L, Laloum D, Rolland MO, Read MH, Guillois B, and Duhamel JF. An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria. Acta Paediatr 2002;91:714-716. PubMed ID 12162608.

Nwokoro NA, Wassif CA, and Porter FD. Genetic disorders of cholesterol biosynthesis in mice and humans. Mol Genet Metab 2001;74:105-119. PubMed ID 11592808.

Okamoto N, Nakayama M, Narahara C, Kim H, Fujioka M, Imada I, Arai T, and Toda S. Mevalonic acidemia: first case of Japan. Jpn J Hum Genet 1997;42:441-444. PubMed ID 12503192.

Ostuni P, Vertolli U, and Marson P. Atypical hypergammaglobulinaemia D syndrome with amyloidosis: an overlap with familial Mediterranean fever? Clin Rheumatol 1996;15:610-612. PubMed ID 8973873.

Ostuni PA, Lazzarin P, Ongaro G, Gusi R, Todesco S, and Gambari PF. Hyper-IGD syndrome: a new case treated with colchicine. Clin Rheumatol 1988;7:398-401. PubMed ID 3229086.

Picco P, Gattorno M, Di Rocco M, and Buoncompagni A. Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome. Ann Rheum Dis 2001;60:904. PubMed ID 11534513.

Poll-The BT, Frenkel J, Houten SM, Kuis W, Duran M, de Koning TJ, Dorland L, de Barse MM, Romeijn GJ, Wanders RJ, and Waterham HR. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome. J Inherit Metab Dis 2000;23:363-366. PubMed ID 10896295.

Prieur AM and Griscelli C. Aspect nosologique des formes systemique d'arthrite juvenile a debut tres precoce. à propos de dix-sept observations. Sem Hop 1984;60:163-167. PubMed ID 6320440.

Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, and Hoffmann GF. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics 2003;111:258-261. PubMed ID 12563048.