Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Deficiencies in proteins of the classic complement pathway are particularly frequent in patients with autoimmune diseases, notably systemic lupus erythematosus (SLE). The C4 component is a polymorphous glucoprotein coded by two closely linked genes, C4A and C4B, located within the HLA complex. C4, and in particular the C4A isotype plays a major role in maintaining immune complexes in solution. Fifty percent of patients with SLE are homozygous or heterozygous to the silent allele C4 AQO. Hereditary CE deficiency is often complicated by lupus-related diseases which may be associated with repeated infections. The biological particularity of SLE associated with complement protein deficiencies is the frequency of anti-SSA (Ro) antibodies.
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PMID:[Lupus and protein deficiencies of the classical complement pathway]. 223 85

The outcome of primary renal transplantation in 31 SLE patients was evaluated in relation to two contemporary controls per patient, matched for age, sex and immunosuppressive therapy. The proportion of living donors was one third in both groups. Patient survival did not differ, but graft survival at 6 and 12 months post transplantation was significantly reduced in SLE patients (p less than 0.001). When divided into groups using either azathioprine and steroids or combinations including cyclosporin A (14 and 17 SLE patients in each group), graft survival was significantly reduced for the azathioprine-treated SLE patients, 36% vs. 82% for their controls at one year. For cyclosporin-treated SLE patients, one-year graft survival was 59% vs. 85% for their controls, and 6 out of 17 grafts in the cyclosporin-treated group were lost within the first month vs. only 4 out of 34 controls. These differences were, however, not statistically different. Most failed grafts were lost from rejection, with a high proportion of acute vascular rejection, isolated or in combination with cellular rejection. There was no apparent association between rejection and HLA-matched or presence of HLA antibodies. Retransplantation was successful in 6 out of 7 cases. We conclude that SLE patients have an increased risk of early graft rejection, but that this may be overcome by more powerful immunosuppressive therapy.
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PMID:Renal transplantation in patients with systemic lupus erythematosus: increased risk of early graft loss. 227 56

In patients with systemic lupus erythematosus (SLE), frequency of the T cells positive for HLA-DP, one of the major histocompatibility complex (MHC) class II molecules, was markedly increased in peripheral blood lymphocytes (PBL), in association with an increase in the amount of specific cytoplasmic transcript of the HLA-DP gene segment. Cell cycle analysis showed that HLA-DP is an early activation marker of T cells and that the high ratios of HLA-DP+ T cells from SLE patients are associated with high frequency of T cells at early activation phases, mainly of G1A. Initial high ratios of HLA-DP+ T cells decreased to a great extent during 4 days of in vitro culture, in the absence of mitogens. This event was associated with decreases in the amount of HLA-DP transcript and the disappearance of activated T cells. Studies on the interleukin 2 (IL-2) production of T cells from patients with SLE demonstrated that while the PBL rich in HLA-DP+ T cells show a markedly low production of IL-2, preculture of these PBL restores the ability to produce IL-2. Thus, it appears that the T cells in patients with SLE are essentially intact with regard to the capacity to produce IL-2 and that T cell activation events continuously occurring in SLE patients are related to a deficiency in IL-2 production. The possible underlying mechanisms are discussed.
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PMID:HLA-DP+ T cells and deficient interleukin-2 production in patients with systemic lupus erythematosus. 232 7

The case is reported of a 42 year old white woman meeting currently used diagnostic criteria for both ankylosing spondylitis and systemic lupus erythematosus (SLE). As found in a previously described similar case of a black man, HLA typing showed antigens associated with both SLE and seronegative spondyloarthropathy. This case thus supports the hypothesis that the two diseases occur together only when this rare combination of HLA antigens is present.
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PMID:Concomitant systemic lupus erythematosus and ankylosing spondylitis. 234 14

The frequency of the HLA-A, -B and -DR alloantigens was studied in 74 unselected, consecutive, unrelated Greek patients with systemic lupus erythematosus (SLE) and the results were compared with those of healthy controls (380 for the class I antigens and 154 for the class II antigens). No statistically significant differences were noted between patients and controls regarding the prevalence of any class II antigen. Furthermore, no such differences were observed between our 36 anti-Ro (SSA) positive and the rest of our SLE patients. However, the coexistence of anti-Ro (SSA) and anti-La (SSB) antibodies (9 patients) correlated significantly with HLA-B8, whereas the haplotype HLA-B8DR3 was more common in the anti-Ro (SSA) positive patients than in the rest-although the difference did not reach statistical significance. The combination of high anti-ds-DNA and low C4 serum levels correlated with absence of HLA-DR5. Our findings, while in agreement with those of certain previous studies, are somewhat different from those of others. The differences may at least partly be related to variations in the control populations employed. On the other hand some of the differences, in accordance with other peculiarities of Greeks with connective tissue disease, emphasize the role of racial and/or ethnic background in the HLA-association of various autoimmune diseases and the fact that the detectable HLA alloantigens in certain diseases modify disease and autoantibody expression rather than being responsible for the autoimmune process itself.
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PMID:HLA alloantigens in Greek patients with systemic lupus erythematosus. 234 34

During a nationwide twin study on multiple sclerosis (MS) in Finland a dizygotic pair discordant for MS was found. The affected co-twin had dizygotic twin daughters. The affected co-twin of the second generation had systemic lupus erythematosus (SLE). Both pairs were thoroughly examined. No evidence of CNS involvement in the healthy co-twins was found. In pairwise comparisons, virus-specific IgG antibodies to measles and mumps were significantly increased in the MS patient whereas the same was true for rubella in the SLE patient. Both MS and SLE patient expressed HLA alleles most often found to be associated with these disorders. Reversed CD4/CD8 ratios were observed in both MS and SLE patient. No difference in interleukin-2 receptor expression were found but gamma-interferon secretion in the MS patient showed marked increase whereas that of the SLE patient was of the same magnitude as in the healthy members. A different triggering stimulus rather than the dissimilarity in the immunogenetic predisposition may be decisive as to whether or not they develop MS or SLE.
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PMID:MS and SLE in twins of successive generations. 235 74

Previous studies of patients with systemic lupus erythematosus (SLE) have shown an increased frequency of certain major histocompatibility complex (MHC) markers, including HLA-DR2, DR3, and C4AQ0 (C4A-null), in Caucasian patients. However, most of these studies were of randomly selected, unrelated patients; families were not included, and haplotypes were not determined. In order to define more accurately the possible role of MHC genes in lupus susceptibility, HLA-A, B, C, and DR, as well as BF, C2, C4A, C4B, and GLO, markers were determined in 62 Caucasian patients of known ethnic background, and in the members of their families. The distributions of extended haplotypes (fixed combinations of HLA-B, DR, and complotype alleles), fragments thereof, and individual alleles were determined in SLE patients and controls. The MHC distributions in all patients were compared with haplotypes in a normal Caucasian population. There were no statistically significant differences between the frequencies of any MHC marker, fragment, or extended haplotype in the patients compared with the controls. The patients were categorized into 2 groups of European ancestry (English/Irish; other Europeans), and each group was compared with a group of ethnically matched controls. There was a statistically significantly increased frequency of the alleles C4AQ0 and DR3 and the complotype SC01 in SLE patients of English/Irish descent as compared with ethnically matched controls. The increase in C4AQ0 and DR3 could be accounted for by the fact that they were part of the extended haplotype [HLA-B8;SC01;DR3] and/or its fragment (SC01;DR3). No increase in any MHC marker was observed in the other patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The effect of ethnicity on major histocompatibility complex complement allotypes and extended haplotypes in patients with systemic lupus erythematosus. 236 33

It has previously been shown, by a haemagglutination assay, that patients with systemic lupus erythematosus (SLE) express increased levels of HLA class I on erythrocytes compared with normal subjects and patients with rheumatoid arthritis (RA). A radioligand-binding assay, using monoclonal antibody W6/32, was devised to quantify HLA class I expression on erythrocytes and platelets. An increased number of class I molecules was expressed on erythrocytes from 45 patients with SLE (mean = 354 molecules per cell, median = 255 molecules, range = 30-1270 molecules per cell), compared with cells from 46 normal subjects (mean = 132, median = 78, range = 40-550) and 31 RA patients (mean = 132, median = 89, range = 26-497). The presence of HLA-B7 correlated with increased class I expression on erythrocytes from both normal subjects and patients with SLE. Levels of HLA class I in serum were measured. All subjects with HLA-A9 (A23, 24) showed higher levels of serum class I than their A9-negative counterparts, and there was no difference in levels between SLE patients and normal subjects. There were no correlations between class I levels in serum and on erythrocytes amongst SLE patients or normal subjects. Red cells were fractionated, according to their age in vivo, on Percoll gradients. Class I levels fell with increasing erythrocyte age in all individuals, but were higher in all fractions from SLE patients compared with age-matched fractions from normal subjects. HLA-B7-positive erythrocytes also expressed higher class I levels in each Percoll fraction, compared with their HLA-B7-negative counterparts, suggesting that enhanced B7 expression is not due to greater structural stability of this class I allotype. These data are compatible with the hypothesis that class I is expressed as an intrinsic protein of erythrocyte membranes and that expression is increased amongst patients with SLE.
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PMID:HLA class I expression on erythrocytes and platelets from patients with systemic lupus erythematosus, rheumatoid arthritis and from normal subjects. 237 8

We identified an extremely rare condition, isolated complete deficiency of the fourth component of complement, in a child with systemic lupus erythematosus. The genes for C4 are located within the major histocompatibility complex (MHC) on the short arm of chromosome 6. The patient expressed only paternal phenotypes for proteins encoded by the MHC (HLA and GLO), yet was 46XX with no detectable 6p deletion. Genomic DNA from patient, parents, and sibling was digested with restriction enzymes, and blots were probed for five chromosome 6 markers. At all loci, maternal and paternal RFLPs could be distinguished, and the patient showed only paternal bands. RFLP analysis of markers from four other chromosomes showed maternal and paternal contribution. The data are consistent with uniparental isodisomy 6 (inheritance of two identical chromosome 6 haplotypes from the father and none from the mother). Direct analysis of genetic material from both parents, as well as detection of multiple protein polymorphisms encoded on chromosome 6, clearly demonstrates this novel mechanism for the expression of a recessive genetic condition.
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PMID:Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. 238 9

The expression of HLA class I was assessed on erythrocytes by haemagglutination with monoclonal antibodies to monomorphic epitopes on the heavy and light (beta 2-microglobulin) chains. Previously, enhancement of HLA class I expression was observed on erythrocytes of many patients with systemic lupus erythematosus (SLE) and chronic lymphatic leukaemia (CLL), and we have now tested erythrocytes from patients (and 130 normal controls) with other auto-immune diseases and renal and haematological disorders. The striking enhancement in patients with SLE and CLL was confirmed. A significant increase in expression was also observed in aplastic anaemia patients following bone marrow transplantation and in renal patients with primary glomerulonephritis who had received a transplant. No class I was expressed by erythrocytes from many patients with inherited haemoglobinopathies and high reticulocyte counts, which suggests that the enhancement in SLE patients cannot be accounted for by immature or young erythrocyte populations. The distribution of HLA-A and -B types in the patients with enhanced class I expression did not relate to those antigens previously detected more frequently on erythrocytes, B7(Bga), B17(Bgb), A28(Bgc), B8 or A10, and the enhancement was not associated with any particular HLA types.
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PMID:Erythroid HLA class I expression in 300 patients with haematological, renal and rheumatological disorders. 239 73


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