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Titolo:
MOLECULAR-BASIS OF HEREDITARY C1Q DEFICIENCY ASSOCIATED WITH SLE AND IGA NEPHROPATHY IN A TURKISH FAMILY
Autore:
TOPALOGLU R; BAKKALOGLU A; SLINGSBY JH; MIHATSCH MJ; PASCUAL M; NORSWORTHY P; MORLEY BJ; SAATCI U; SCHIFFERLI JA; WALPORT MJ;
Indirizzi:
HACETTEPE UNIV,HACETTEPE CHILDRENS HOSP,DEPT PEDIAT NEPHROL & RHEUMATOL TR-06100 ANKARA TURKEY HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT MED,RHEUMATOL UNIT LONDON ENGLAND UNIV BASEL,KANTONSSPITAL,DEPT MED CH-4031 BASEL SWITZERLAND UNIV BASEL,KANTONSSPITAL,DEPT PATHOL CH-4031 BASEL SWITZERLAND
Titolo Testata:
Kidney international
fascicolo: 2, volume: 50, anno: 1996,
pagine: 635 - 642
SICI:
0085-2538(1996)50:2<635:MOHCDA>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYSTEMIC LUPUS-ERYTHEMATOSUS; ANTIBODY-PRODUCTION; IMMUNE-RESPONSE; C3 DEFICIENCY; 3RD COMPONENT; COMPLEMENT; CLQ; INFECTIONS; INDUCTION; COMPLEXES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
R. Topaloglu et al., "MOLECULAR-BASIS OF HEREDITARY C1Q DEFICIENCY ASSOCIATED WITH SLE AND IGA NEPHROPATHY IN A TURKISH FAMILY", Kidney international, 50(2), 1996, pp. 635-642

Abstract

Two siblings (case 1 and case 2) with homozygous C1q deficiency are described. Both presented with a photosensitive rash, and during follow-up case one developed SLE with nephrotic range proteinuria. Case 2 had microscopic hematuria with a past history of macroscopic hematuria. Renal biopsies revealed mesangioproliferative glomerulonephritis in case 1 and IgA nephropathy in case 2, a new finding in association with C1q deficiency. Since the classical pathway of complement plays a rolein the development of antibody responses, the family was also evaluated for the immune response to hepatitis B vaccine. Antibody response to hepatitis B vaccine was normal in both affected members and the restof the family. The A-, B- and C- chain genes of C1q were amplified byPCR and directly sequenced. A homozygous C to T point mutation was identified in genomic DNA isolated from the patients at codon 186 in theA chain that resulted in a premature stop codon. This mutation was present in both parents and both unaffected sibs in the heterozygous stale. This mutation was identical to that previously described in a Slovakian family with C1q deficiency. Because of this finding, a series of92 genomic DNA samples was screened from ethnically distinct patient groups with SLE to test the hypothesis that this mutation of C1q may be a widespread disease susceptibility gene. No further examples of this mutation were found.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 21:20:27