메뉴 건너뛰기




Volumn 114, Issue 2, 2003, Pages 148-152

A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; MEVALONATE KINASE; UNCLASSIFIED DRUG;

EID: 0037313632     PISSN: 00029343     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9343(02)01429-8     Document Type: Article
Times cited : (44)

References (33)
  • 2
    • 0021287627 scopus 로고
    • Hyperimmunoglobulinaemia D and periodic fever: A new syndrome
    • van der Meer J.W.M., Vossen J.M., Radl J., et al. Hyperimmunoglobulinaemia D and periodic fever a new syndrome. Lancet. 1:1984;1087-1090.
    • (1984) Lancet , vol.1 , pp. 1087-1090
    • Van der Meer, J.W.M.1    Vossen, J.M.2    Radl, J.3
  • 3
    • 0021771086 scopus 로고
    • Nosocologic aspects of systemic forms of very-early-onset juvenile arthritis. Apropos of 17 cases
    • [in French]
    • Prieur A.M., Griscelli C. Nosocologic aspects of systemic forms of very-early-onset juvenile arthritis. Apropos of 17 cases. [in French] Sem Hop. 60:1984;163-167.
    • (1984) Sem Hop , vol.60 , pp. 163-167
    • Prieur, A.M.1    Griscelli, C.2
  • 6
    • 0029882189 scopus 로고    scopus 로고
    • Hyperimmunoglobulinemia D or period fever syndrome. Cutaneous manifestations in 3 cases
    • [in French]
    • Cartier H., Guillet M.H., Lemoigne E., et al. Hyperimmunoglobulinemia D or period fever syndrome. Cutaneous manifestations in 3 cases. [in French] Ann Dermatol Venereol. 123:1996;314-321.
    • (1996) Ann Dermatol Venereol , vol.123 , pp. 314-321
    • Cartier, H.1    Guillet, M.H.2    Lemoigne, E.3
  • 7
    • 0021254451 scopus 로고
    • Hyperimmunoglobulinaemia D and periodic fever
    • Reeves W.G., Mitchell J.R. Hyperimmunoglobulinaemia D and periodic fever. Lancet. 1:1984;1463-1464.
    • (1984) Lancet , vol.1 , pp. 1463-1464
    • Reeves, W.G.1    Mitchell, J.R.2
  • 8
    • 0030936217 scopus 로고    scopus 로고
    • Periodic fever and persistent vomiting: First case of a hyper Ig-D sydrome in Germany
    • [in German]
    • Czap C., Ko H.K., Eife R., Belohradsky B.H. Periodic fever and persistent vomiting first case of a hyper Ig-D sydrome in Germany. [in German] Monatsschr Kinderheilkd. 145:1997;117-119.
    • (1997) Monatsschr Kinderheilkd , vol.145 , pp. 117-119
    • Czap, C.1    Ko, H.K.2    Eife, R.3    Belohradsky, B.H.4
  • 9
    • 0030959944 scopus 로고    scopus 로고
    • Hyper-IgD-syndrome
    • [in German]
    • Suschke J., Walther J.U. Hyper-IgD-syndrome. [in German] Z Rheumatol. 56:1997;40-42.
    • (1997) Z Rheumatol , vol.56 , pp. 40-42
    • Suschke, J.1    Walther, J.U.2
  • 10
    • 0024152404 scopus 로고
    • Hyper-IgD syndrome: A new case treated with colchicine
    • Ostuni P.A., Lazzarin P., Ongaro G., et al. Hyper-IgD syndrome a new case treated with colchicine. Clin Rheumatol. 7:1988;398-401.
    • (1988) Clin Rheumatol , vol.7 , pp. 398-401
    • Ostuni, P.A.1    Lazzarin, P.2    Ongaro, G.3
  • 11
    • 0029315574 scopus 로고
    • Hyper-IgD syndrome (HIDS)
    • [in Italian]
    • Scolozzi R. Hyper-IgD syndrome (HIDS). [in Italian] Recenti Prog Med. 86:1995;243-247.
    • (1995) Recenti Prog Med , vol.86 , pp. 243-247
    • Scolozzi, R.1
  • 12
    • 0025765345 scopus 로고
    • Hyperimmunoglobulinaemia D and periodic fever mimicking familial Mediterranean fever in the Mediterranean
    • Topaloglu R., Saatci U. Hyperimmunoglobulinaemia D and periodic fever mimicking familial Mediterranean fever in the Mediterranean. Postgrad Med J. 67:1991;490-491.
    • (1991) Postgrad Med J , vol.67 , pp. 490-491
    • Topaloglu, R.1    Saatci, U.2
  • 13
    • 0348051659 scopus 로고
    • The hyperimmunoglobulinemia D syndrome
    • [in Czech]
    • Jilek D. The hyperimmunoglobulinemia D syndrome. [in Czech] Cas Lek Cesk. 130:1991;305.
    • (1991) Cas Lek Cesk , vol.130 , pp. 305
    • Jilek, D.1
  • 15
    • 0027315819 scopus 로고
    • Association of hyperimmunoglobulinaemia D syndrome with erythema elevatum diutinum
    • Miyagawa S., Kitamura W., Morita K., et al. Association of hyperimmunoglobulinaemia D syndrome with erythema elevatum diutinum. Br J Dermatol. 128:1993;572-574.
    • (1993) Br J Dermatol , vol.128 , pp. 572-574
    • Miyagawa, S.1    Kitamura, W.2    Morita, K.3
  • 16
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
    • Drenth J.P.H., Cuisset L., Grateau G., et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet. 22:1999;178-181.
    • (1999) Nat Genet , vol.22 , pp. 178-181
    • Drenth, J.P.H.1    Cuisset, L.2    Grateau, G.3
  • 17
    • 0032987982 scopus 로고    scopus 로고
    • Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
    • Houten S.M., Kuis W., Duran M., et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 22:1999;175-177.
    • (1999) Nat Genet , vol.22 , pp. 175-177
    • Houten, S.M.1    Kuis, W.2    Duran, M.3
  • 18
    • 0035806948 scopus 로고    scopus 로고
    • Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool
    • Simon A., Cuisset L., Vincent M.F., et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome its application as a diagnostic tool. Ann Intern Med. 135:2001;338-343.
    • (2001) Ann Intern Med , vol.135 , pp. 338-343
    • Simon, A.1    Cuisset, L.2    Vincent, M.F.3
  • 19
    • 0034672705 scopus 로고    scopus 로고
    • Biochemical and genetic aspects of mevalonate kinase and its deficiency
    • Houten S.M., Wanders R.J., Waterham H.R. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta. 1529:2000;19-32.
    • (2000) Biochim Biophys Acta , vol.1529 , pp. 19-32
    • Houten, S.M.1    Wanders, R.J.2    Waterham, H.R.3
  • 20
    • 0035055571 scopus 로고    scopus 로고
    • Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
    • Cuisset L., Drenth J.P.H., Simon A., et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet. 9:2001;260-266.
    • (2001) Eur J Hum Genet , vol.9 , pp. 260-266
    • Cuisset, L.1    Drenth, J.P.H.2    Simon, A.3
  • 22
    • 0034080217 scopus 로고    scopus 로고
    • Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene
    • Houten S.M., Frenkel J., Kuis W., et al. 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. 23:2000;367-370.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 367-370
    • Houten, S.M.1    Frenkel, J.2    Kuis, W.3
  • 24
    • 0028026953 scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group
    • Drenth J.P.H., Haagsma C.J., van der Meer J.W.M. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore). 73:1994;133-144.
    • (1994) Medicine (Baltimore) , vol.73 , pp. 133-144
    • Drenth, J.P.H.1    Haagsma, C.J.2    Van der Meer, J.W.M.3
  • 25
    • 0028148178 scopus 로고
    • Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group
    • Drenth J.P.H., Mariman E.C., van der Velde-Visser S.D., et al. 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. 94:1994;616-620.
    • (1994) Hum Genet , vol.94 , pp. 616-620
    • Drenth, J.P.H.1    Mariman, E.C.2    Van der Velde-Visser, S.D.3
  • 26
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C., Faure S., Fizames C., et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 380:1996;152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 27
    • 85031214577 scopus 로고    scopus 로고
    • BLAST (Basic Local Alignment Search Tool). Available at: http://www.ncbi.nlm.nih.gov/BLAST/. Accessed March 27, 2002.
    • (2002)
  • 28
    • 0019732410 scopus 로고
    • Measuring the strength of associations between HLA antigens and diseases
    • Bengtsson B.O., Thomson G. Measuring the strength of associations between HLA antigens and diseases. Tissue Antigens. 18:1981;356-363.
    • (1981) Tissue Antigens , vol.18 , pp. 356-363
    • Bengtsson, B.O.1    Thomson, G.2
  • 29
    • 0031457280 scopus 로고    scopus 로고
    • Fever of unknown origin (FUO). A prospective multicenter study of 167 patients with FUO, using fixed epidemiologic entry criteria. The Netherlands FUO Study Group
    • de Kleijn E.M., Vandenbroucke J.P., van der Meer J.W.M. Fever of unknown origin (FUO). A prospective multicenter study of 167 patients with FUO, using fixed epidemiologic entry criteria. The Netherlands FUO Study Group. Medicine (Baltimore). 76:1997;392-400.
    • (1997) Medicine (Baltimore) , vol.76 , pp. 392-400
    • De Kleijn, E.M.1    Vandenbroucke, J.P.2    Van der Meer, J.W.M.3
  • 30
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 90:1997;797-807.
    • (1997) Cell , vol.90 , pp. 797-807
  • 31
    • 0031814513 scopus 로고    scopus 로고
    • Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health
    • Samuels J., Aksentijevich I., Torosyan Y., et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore). 77:1998;268-297.
    • (1998) Medicine (Baltimore) , vol.77 , pp. 268-297
    • Samuels, J.1    Aksentijevich, I.2    Torosyan, Y.3
  • 32
    • 0034031649 scopus 로고    scopus 로고
    • The genetic basis of autosomal dominant familial Mediterranean fever
    • Booth D.R., Gillmore J.D., Lachmann H.J., et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM. 93:2000;217-221.
    • (2000) QJM , vol.93 , pp. 217-221
    • Booth, D.R.1    Gillmore, J.D.2    Lachmann, H.J.3
  • 33
    • 0344609221 scopus 로고    scopus 로고
    • Acute phase response and evolution of familial Mediterranean fever
    • Tunca M., Kirkali G., Soyturk M., et al. Acute phase response and evolution of familial Mediterranean fever. Lancet. 353:1999;1415.
    • (1999) Lancet , vol.353 , pp. 1415
    • Tunca, M.1    Kirkali, G.2    Soyturk, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.