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)

Human red cells sensitized with one of the Rh antisera (Ripley) form rosettes (Fc-rosette) with human B lymphocytes and the rosettes are well inhibited by aggregated human IgG. Since sera of hypocomplementaemic patients with systemic lupus erythematosus (SLE) have frequently been reported to contain immune complexes, they were used for the inhibition of Fc-rosette formation in this study. The results of Fc-rosette inhibition rates of the sera were inversely correlated with the serum CH50 levels. When the sera were separated into top, middle, and bottom fractions by ultracentrifugation, the bottom fractions showed more effective inhititions than the others. Similarly, the strongest inhibition was found in the void volume of the serum separated by Sephadex G200 gel filtration. Reduction and alkylation of IgG resulted in the loss of reactivity with Fc receptor of B lymphocytes, and the rosette inhibiting activities of the SLE sera were markedly reduced after reduction and alkylation. Some of anti-HLA sera were inhibitory for the Fc-rosette formation, while the tested sera did not contain anti-HLA activity assessed by the microcytotoxicity test. These results indicated that circulating immune complexes contained in the sera inhibit the rosette formation, and that the Fc-rosette inhibition test is a simple and relatively sensitive method for the detection of circulating immune complexes. Antinuclear antibody activities of the sera were tested by the indirect immunofluorescent method; however, clear correlations were not obtained between Fc-rosette inhibition rates and staining patterns of antinuclear antibodies. On the other hand, the positive groups of LE-test exhibited slightly greater inhibition rates of the rosette than the negative groups.
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PMID:Fc-rosette inhibition by hypocomplementaemic systemic lupus erythematosus sera. 108 53

1. The most common disease leading to end-stage renal disease were IDDM for Whites (36%), hypertensive NS for Blacks (26%), and CGN for Hispanics (35%) and Asians (47%). These racial differences should be taken into account in analyzing outcomes with respect to disease. 2. Differences in graft survival associated with different primary diseases were more apparent among Whites than Blacks. Race, rather than disease, was the dominant factor. 3. One-year graft survival was consistently highest for patients with IgA nephropathy (87%) and poorest for patients with SLE (78%). The difference across the spectrum of original diseases was significant (p < 0.001). 4. About 84% of White diabetics and 90% of those under age 50 had an HLA-DR3 or 4 tissue type compared with 50% of White donors (p < 0.001). The 1-year graft survival rate was 80% for DR3 or 4 IDDM patients and 74% for non-DR3/4 patients (p < 0.001). Black IDDM patients also had a significantly increased frequency of DR3 and 4 compared with Black donors (46% vs 32%, p < 0.001) and a similar trend toward higher graft survival, although the difference was not significant. 5. Of Whites transplanted with SLE, 60% had HLA-DR2 or 3 compared with 47% of donors (p < 0.001) and those with DR2 or 3 had significantly higher 1-year graft survival rates. Similar trends were noted for Blacks with SLE. 6. HLA-DR2 was present in 46 of 72 patients (64%) transplanted for Goodpasture's syndrome, compared with 28% of donors. Despite the small numbers, 1-year grafts survival was significantly better in the HLA-DR2 group (p = 0.006). 7. Significantly higher graft survival rates were observed among patients with HLA-DR1 in non-HLA-DR-associated diseases (CGN, IN, NS, or PC) but not in HLA-DR-associated diseases such as IDDM and SLE. 8. There were significant differences in recipient age and sex distributions in the major disease groups. Blacks under age 50 had significantly poorer outcomes than comparable Whites. 9. Pretransplantation health status influenced graft outcome in all disease groups. Patients with IDDM or NS were generally less healthy and correspondingly more debilitated than patients with other diseases. 10. Diabetic given a simultaneous kidney-pancreas transplant had 83% 1-year graft survival compared with 78% for those given a kidney alone (p < 0.001).
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PMID:Disease effects and associations. 130 13

The first inherited combined total deficiency of C7 and C4B complement components associated with SLE is described in a young female. Functional C7 assays showed a homozygous C7 deficiency in the propositus and her sister, and an heterozygous one in their parents. C4 molecular analyses showed that both the propositus and her mother had two HLA haplotypes carrying only C4A-specific DNA sequences and a normal C4 gene number. Thus, only C4A proteins could be expressed, with resultant normal C4 serum levels. The coexistence of a combined complete C7 and C4B deficiency may therefore abrogate essential functions of the complement cascade presumably related to immune complex handling and solubilization despite an excess of circulating C4A. These findings challenge the putative pathophysiological roles of C4A and C4B and stress the need to perform both functional assays and C4 allotyping in patients with autoimmune pathology and low haemolytic activity without low serum levels of a classical pathway complement component.
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PMID:Combined total deficiency of C7 and C4B with systemic lupus erythematosus (SLE). 134 91

A role for heat shock proteins (HSPs) in autoimmunity has recently been suggested by several authors. Autoantibodies against HSPs have been associated with such autoimmune diseases as systemic lupus erythematosus, polymyositis, and the NOD mouse model of diabetes. Moreover, genes for the major 70,000-M(r) HSP (HSP70) are located within the MHC. To investigate a potential association of an HSP70-2 gene polymorphism with insulin-dependent diabetes mellitus (IDDM), we analyzed restriction-fragment-length polymorphism (RFLP) of this gene in 29 families with one or more member affected by IDDM. With the enzyme PstI, as reported previously, two HSP70-2 alleles of 8.5- and 9.0-kb were found. The 8.5-kb allele was found more frequently on diabetic haplotypes compared with control haplotypes (41 of 66 [62%] vs. 20 of 46 [43%], P = 0.03). This association was due to the conservation of alleles on extended haplotypes we previously reported to be associated with diabetes on initial analysis of families. Twenty-three of 26 diabetic DR3 haplotypes and 3 of 3 normal DR3 haplotypes and all instances of [HLA-B8, SC01, DR3] and [HLA-B18, F1C30, DR3] had the 8.5-kb allele, whereas 0 of 9 normal DR2 haplotypes and 0 of 2 diabetic DR2 haplotypes had the 8.5-kb allele (P = 8 x 10(-7) DR3 vs. DR2 haplotypes). The alleles were equally distributed among DR4 haplotypes.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:No independent association between HSP70 gene polymorphism and IDDM. 135 54

Human TNF alpha locus locates between HLA-B and DR region on the short arm of chromosome 6. The 5.5 kb and 10.5 kb of TNF alpha restriction fragment length polymorphic (RFLP) bands were identified by Southern hybridization using a restriction enzyme, NcoI. The frequencies of those bands were not different among patients with systemic lupus erythematosus (SLE), those with rheumatoid arthritis and normal controls. In the lupus patients, proteinuria was more frequent in the patients with the 5.5 kb RFLP band (19/39: 48.7%) than those without 5.5 kb band (7/35: 20%) (p less than 0.05). Furthermore, this band was strongly associated with the haplotype HLA B44-DRw13-DQw1. In order to investigate the association between this gene polymorphism and the production of TNF alpha, peripheral blood mononuclear cells from patients with SLE and normal controls were cultured for 24 hours with lipopolysaccharide and concanavalin A and the amount of TNF alpha in the supernatant was measured by enzyme linked immunosorbent assay. The TNF alpha production of lupus patients was not statistically different from that of normal controls. The production of TNF alpha was not related to 5.5 kb RFLP band, but in the patients with SLE, the mean value of TNF alpha in patients with the 5.5 kb RFLP band tended to be higher than those without the band. Lupus patients were divided into two groups by the production of TNF alpha i.e. low TNF alpha inducibility group and high TNF alpha inducibility group. Patients with proteinuria were more frequent in patients of the high TNF alpha inducibility group than those of low TNF alpha inducibility group (p less than 0.05). There were four patients with HLA B44-DRw13-DQw1 who had the 5.5 kb RFLP band and three of them belonged to the high TNF alpha inducibility group with nephrosis. These data suggest that TNF alpha and HLA are possibly associated with the severity of lupus nephritis.
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PMID:[Tumor necrosis factor alpha in systemic lupus erythematosus: evaluation by restriction fragment length polymorphism and production by peripheral blood mononuclear cells]. 135 65

In a multicenter study more than 300 central European systemic lupus erythematosus (SLE) patients were examined for HLA-B, HLA-DR, and complement C4 phenotypes. For 174 SLE patients MHC haplotypes were determined by family segregation analysis, and for 155 patients C4 gene deletions were determined by TaqI restriction fragment length polymorphism. Two haplotypes, B8-C4AQ0-C4B1-DR3 and B7-C4A3-C4B1-DR2, were identified as risk factors for SLE. These findings were confirmed by applying the haplotype frequency difference (HFD) method, which uses nontransmitted haplotypes from the family study as internal controls. Furthermore, only HLA-DR2, but not DR3, B7, or B8, was significantly increased in SLE patients independently of the two risk haplotypes. C4A gene deletions, but not silent C4AQ0 alleles, were increased in SLE patients and neither C4BQ0 alleles nor C4B gene deletions were increased. The observed frequencies of homozygosity and heterozygosity for the two haplotypes and the frequencies of homozygotes for C4AQ0 and C4A deletions did not differ from the expected values, indicating that the risk for SLE is conveyed by single allele effects. In conclusion, there are two MHC-linked susceptibility factors for Caucasian SLE patients carried by the haplotypes B7-DR2 and B8-DR3. The results argue against C4Q0 alleles being the decisive factors increasing susceptibility to SLE.
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PMID:Major histocompatibility complex haplotypes and complement C4 alleles in systemic lupus erythematosus. Results of a multicenter study. 140 Oct 69

Antiphospholipid syndrome (APS) is an entity characterized by recurrent thrombotic events and may occur spontaneously or in the context of systemic lupus erythematosus (SLE). We describe an English Canadian family in whom the propositus, a woman with Graves' disease and SLE, was found to have a lupus anticoagulant and anticardiolipin antibody (aCL). A brother with deep vein thrombosis, pulmonary emboli, bilateral adrenal hemorrhage and thrombocytopenia, circulating anticoagulant and aCL had a positive antinuclear antibody and Coombs' test, but no other features of SLE. Fourteen members of 3 generations of this family underwent clinical assessments, serological testing and HLA typing. The propositus' mother had a family history of autoimmune thyroid disease and the father had aCL, but was asymptomatic. The thyroid disease and the SLE were associated with HLA-B8, DR3 haplotype. The aCL and the anticoagulant were associated with HLA-B60, DR4 haplotype. Both these haplotypes were present in the propositus. Among the other 4 carriers of the haplotype B60, DR4, 3 demonstrated significant titers of aCL. Our findings support the reported association between APS and the HLA haplotype DR4 in patients of English descent with SLE.
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PMID:A family study of the antiphospholipid syndrome associated with other autoimmune diseases. 143 7

Antiphospholipid antibodies (APA) are known to be associated with a number of seemingly heterogeneous pathological conditions that are part of the antiphospholipid syndrome, formerly called anticardiolipin syndrome. Recent studies on the mechanism of action of these autoantibodies suggest that we are dealing with a new autoimmune syndrome which may occur either in a primary form or in the context of other autoimmune diseases, mainly systemic lupus erythematosus (SLE). Moreover, increased levels of APA have been found in elderly subjects, who are known to display increased frequency of autoimmune phenomena. It is well known that many autoimmune diseases, including SLE, are associated with HLA antigens, particularly with HLA-B8,DR3 phenotype. In our study, APA serum levels were analyzed in 26 old subjects and in 56 young ones. The results demonstrate that HLA-B8,DR3-positive young females display significantly higher levels of APA than HLA-B8,DR3-negative ones. Interestingly, the same is true for elderly subjects on the whole with respect to young individuals. These data are consistent with previous findings demonstrating that HLA-B8,DR3-positive subjects (mainly female) as well as old subjects display (also in the absence of any clinical manifestation), multiple immune dysfunctions that may underlie the predisposition to autoimmunity.
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PMID:Blood antiphospholipid antibody levels are influenced by age, sex and HLA-B8,DR3 phenotype. 148 52

Thrombosis is an uncommon though well recognized complication of inflammatory bowel disease, for which various coagulation alterations have been described as possible causes. Antiphospholipid syndrome (APS) is defined as the association of thrombosis, fetal loss and thrombocytopenia with anticardiolipin antibodies (aCL) and/or lupus anticoagulant (LA). We describe a case of a 21-year-old female with recurrent thrombosis associated with aCL who went on to develop Crohn's disease. Tissue typing done in this patient revealed the presence of the HLA-DR7, DRw53, which previous studies have shown to be found in increased frequencies in APS patients. To our knowledge, this is the first report of an association between these two clinical conditions and, in this particular case, aCL may be implicated in the thrombotic events.
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PMID:Anticardiolipin antibodies in a patient with Crohn's disease and thrombosis. 150 9

The authors describe a case of systemic lupus erythematosus in a 33-year-old female patient who developed the disease 12 years after thymectomy on account of myasthenia gravis. The activity of systemic lupus erythematosus was controlled by pulsed treatment with methyl prednisolone followed by long-term oral glucocorticoid and immunosuppressive therapy. The authors discuss the risk of systemic lupus erythematosus after thymectomy on account of myasthenia gravis with regard to the HLA haplotype.
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PMID:[Systemic lupus erythematosus after thymectomy in myasthenia gravis]. 150 20


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