메뉴 건너뛰기




Volumn 29, Issue 5, 2009, Pages 691-695

A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis

Author keywords

Deficiency; Membrane attack complex; Meningitis; Mutation

Indexed keywords

COMPLEMENT COMPONENT C8; COMPLEMENT COMPONENT C8BETA; UNCLASSIFIED DRUG;

EID: 69249216473     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-009-9295-7     Document Type: Article
Times cited : (14)

References (17)
  • 1
    • 0026334328 scopus 로고
    • Inherited deficiencies of the terminal components of human complement
    • R Wurzner A Orren PJ Lachmann 1992 Inherited deficiencies of the terminal components of human complement Immunodefic Rev 3 123 147
    • (1992) Immunodefic Rev , vol.3 , pp. 123-147
    • Wurzner, R.1    Orren, A.2    Lachmann, P.J.3
  • 2
    • 0025913102 scopus 로고
    • Infectious diseases associated with complement deficiencies
    • JE Figueroa P Densen 1991 Infectious diseases associated with complement deficiencies Clin Microbiol Rev 4 359 395
    • (1991) Clin Microbiol Rev , vol.4 , pp. 359-395
    • Figueroa, J.E.1    Densen, P.2
  • 3
    • 0021611738 scopus 로고
    • Complement deficiency states and infection: Epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency
    • 10.1097/00005792-198409000-00001
    • SC Ross P Densen 1984 Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency Medicine (Baltimore) 63 243 273 10.1097/00005792- 198409000-00001
    • (1984) Medicine (Baltimore) , vol.63 , pp. 243-273
    • Ross, S.C.1    Densen, P.2
  • 4
    • 0024446314 scopus 로고
    • Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups
    • 10.1016/S0140-6736(89)90712-5
    • CA Fijen EJ Kuijper AJ Hannema AG Sjoholm JP van Putten 1989 Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups Lancet 2 585 588 10.1016/S0140-6736(89)90712-5
    • (1989) Lancet , vol.2 , pp. 585-588
    • Fijen, C.A.1    Kuijper, E.J.2    Hannema, A.J.3    Sjoholm, A.G.4    Van Putten, J.P.5
  • 5
    • 0029060839 scopus 로고
    • Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes
    • MJ Hobart BA Fernie RG DiScipio 1995 Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes J Immunol 154 5188 5194
    • (1995) J Immunol , vol.154 , pp. 5188-5194
    • Hobart, M.J.1    Fernie, B.A.2    Discipio, R.G.3
  • 6
    • 0024745722 scopus 로고
    • Chromosomal assignment of genes encoding the alpha, beta, and gamma subunits of human complement protein C8: Identification of a close physical linkage between the alpha and the beta loci
    • 10.1016/0888-7543(89)90012-8
    • KM Kaufman JV Snider NK Spurr CE Schwartz JM Sodetz 1989 Chromosomal assignment of genes encoding the alpha, beta, and gamma subunits of human complement protein C8: identification of a close physical linkage between the alpha and the beta loci Genomics 5 475 480 10.1016/0888-7543(89)90012-8
    • (1989) Genomics , vol.5 , pp. 475-480
    • Kaufman, K.M.1    Snider, J.V.2    Spurr, N.K.3    Schwartz, C.E.4    Sodetz, J.M.5
  • 7
    • 0029790615 scopus 로고    scopus 로고
    • Physical linkage and orientation of the human complement C8α and C8β genes on chromosome 1p32
    • DOI 10.1007/s004390050236
    • PL Platteborze MJ Hobart JM Sodetz 1996 Physical linkage and orientation of the human complement C8 alpha and C8 beta genes on chromosome 1p32 Hum Genet 98 443 446 10.1007/s004390050236 (Pubitemid 26336169)
    • (1996) Human Genetics , vol.98 , Issue.4 , pp. 443-446
    • Platteborze, P.L.1    Hobart, M.J.2    Sodetz, J.M.3
  • 8
    • 0028793204 scopus 로고
    • Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C>T transition in their genesis
    • L Saucedo L Ackermann AE Platonov A Gewurz RM Rakita P Densen 1995 Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C>T transition in their genesis J Immunol 155 5022 5028
    • (1995) J Immunol , vol.155 , pp. 5022-5028
    • Saucedo, L.1    Ackermann, L.2    Platonov, A.E.3    Gewurz, A.4    Rakita, R.M.5    Densen, P.6
  • 11
    • 0031458902 scopus 로고    scopus 로고
    • Molecular, genetic, and functional analysis of homozygous C8 β-chain deficiency in two siblings
    • DOI 10.1016/S0162-3109(97)00074-X, PII S016231099700074X
    • V Kotnik T Luznik-Bufon PM Schneider M Kirschfink 1997 Molecular, genetic, and functional analysis of homozygous C8 beta-chain deficiency in two siblings Immunopharmacology 38 215 221 10.1016/S0162-3109(97)00074-X (Pubitemid 28049982)
    • (1997) Immunopharmacology , vol.38 , Issue.1-2 , pp. 215-221
    • Kotnik, V.1    Luznik-Bufon, T.2    Schneider, P.M.3    Kirschfink, M.4
  • 12
    • 0030060393 scopus 로고    scopus 로고
    • Invasive Haemophilus influenzae type b infection in a child with familial deficiency of the beta subunit of the eighth component of complement
    • DOI 10.1016/S0022-3476(96)70436-5
    • DE Pallares JE Figueroa P Densen PC Giclas GS Marshall 1996 Invasive Haemophilus influenzae type b infection in a child with familial deficiency of the beta subunit of the eighth component of complement J Pediatr 128 102 103 10.1016/S0022-3476(96)70436-5 (Pubitemid 26028965)
    • (1996) Journal of Pediatrics , vol.128 , Issue.1 , pp. 102-103
    • Pallares, D.E.1    Figueroa, J.E.2    Densen, P.3    Giclas, P.C.4    Marshall, G.S.5
  • 13
    • 0028062882 scopus 로고
    • Deficiency of the β subunit of the eighth component of complement presenting as arthritis and exanthem
    • DOI 10.1002/art.1780371121
    • NM Wulffraat EA Sanders CA Fijen A Hannema W Kuis BJ Zegers 1994 Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem Arthritis Rheum 37 1704 1706 10.1002/art.1780371121 (Pubitemid 24345820)
    • (1994) Arthritis and Rheumatism , vol.37 , Issue.11 , pp. 1704-1706
    • Wulffraat, N.M.1    Sanders, E.A.M.2    Fijen, C.A.P.3    Hannema, A.4    Kuis, W.5    Zegers, B.J.M.6
  • 14
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • DOI 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
    • JT den Dunnen SE Antonarakis 2000 Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion Hum Mutat 15 7 12 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N (Pubitemid 30036162)
    • (2000) Human Mutation , vol.15 , Issue.1 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 15
    • 0022924387 scopus 로고
    • Component deficiencies. 8. the eighth component
    • F Tedesco 1986 Component deficiencies. 8. The eighth component Prog Allergy 39 295 306
    • (1986) Prog Allergy , vol.39 , pp. 295-306
    • Tedesco, F.1
  • 17
    • 34548337129 scopus 로고    scopus 로고
    • The majority of recent short DNA insertions in the human genome are tandem duplications
    • DOI 10.1093/molbev/msm035
    • PW Messer PF Arndt 2007 The majority of recent short DNA insertions in the human genome are tandem duplications Mol Biol Evol 24 1190 1197 10.1093/molbev/msm035 (Pubitemid 47343641)
    • (2007) Molecular Biology and Evolution , vol.24 , Issue.5 , pp. 1190-1197
    • Messer, P.W.1    Arndt, P.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.