C2 deficiency in blood donors and lupus patients: Prevalence, clinical characteristics and HLA-associations in the Brazilian population

C2 deficiency in blood donors and lupus patients: Prevalence, clinical characteristics and HLA-associations in the Brazilian population

Author Araujo, MNT Google Scholar
Silva, N. P. Google Scholar
Andrade, LEC Google Scholar
Sato, E. I. Google Scholar
GerbaseDeLima, M. Google Scholar
Leser, P. G. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract The objective of the present study was to investigate the prevalence, clinical characteristics, and HLA associations of C2 deficiency in the Brazilian population. the frequency of C2 deficiency profile (C2Q degrees profile) was 2.2% among 1503 blood donors and 6.6% among 166 patients with systemic lupus erythematosus (SLE). A higher incidence of clinical manifestations possibly related to immune complex disease was observed among blood donors with C2Q degrees profile and their relatives with C2Q degrees profile when compared to the normal C2 relatives. the comparison of clinical and laboratory features between SLE patients with C2Q degrees profile and those with normal C2 revealed earlier disease onset, higher frequency of oral ulcerations and lower frequency of anti-native DNA antibodies in the first group. the HLA study conducted on 18 individuals with C2Q degrees profile (11 blood donors and 7 SLE patients) confirmed the previously reported association with the antigens HLA-A25, B18 and DR2, supporting the concept that probably most C2 deficiency cases, throughout the world, are due to a single mutation in the C2 gene in linkage disequilibrium with the A25B18DR2 haplotype.
Keywords C2 deficiency
systemic lupus erythematosus
HLA
genetics
Language English
Date 1997-01-01
Published in Lupus. Basingstoke: Stockton Press, v. 6, n. 5, p. 462-466, 1997.
ISSN 0961-2033 (Sherpa/Romeo, impact factor)
Publisher Stockton Press
Extent 462-466
Origin http://dx.doi.org/10.1177/096120339700600509
Access rights Closed access
Type Article
Web of Science ID WOS:A1997XH69000009
URI http://repositorio.unifesp.br/handle/11600/25680

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