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)

An Arab woman presented with a history of multiple foetal losses and spontaneous venous thromboembolism, which recurred on several occasions. The presence of antiphospholipid antibodies in the absence of other clinical and serological features of systemic lupus erythematosus (SLE), including negative antinuclear antibodies (ANA), confirmed the diagnosis of primary antiphospholipid syndrome (PAPS). More than 15 years after the beginning of clinical events and 10 years after diagnosis, she progressed into the immunological domain of SLE without concurrent clinical features. The patient exhibited weakly positive ANA of a speckled pattern, strongly positive anti (ds) DNA antibodies and false positive VDRL. Lymphopenia has not been observed at any stage of the follow-up. Although the evolution of PAPS into SLE has been infrequently reported, this seems to be another case suggesting that PAPS in some patients may be an early manifestation of lupus.
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PMID:Progression of primary APS (Hughes syndrome) into serological SLE: case report. 1126 37

The aim of this study was to determine the distribution of the FcgammaRlla and FcgammaRIIIa polymorphisms and their association with clinical manifestations in Korean lupus patients. Three hundred SLE (systemic lupus erythematosus) patients (48 male, 252 female) meeting 1982 ACR criteria and 197 Korean disease-free controls were enrolled. Genotyping for FcgammaRlla 131 R/H and FcgammaRIIIa 176 F/V was performed by PCR of genomic DNA using allele-specific primers and the FcgammaRIIIa genotype was confirmed by direct sequencing of PCR product in some cases. There was significant skewing in the distribution of the three FcgammaRIIa genotypes between the SLE and the controls (P=0.002 for R/R131 vs R/H131 and H/H131, OR 2.5 (95% Cl 1.4-4.5), but not in FcgammaRIIIa genotypes. FcgammaRIIa-R allele was a significant predictor of lupus nephritis, as compared with SLE patients without nephritis (P=0.034 for R131 vs H131, OR 1.4 (95% Cl 1.03-1.9)), but proliferative nephritis (WHO class III and IV) was less common in patients with FcgammaRlla-R/R131 and in FcgammaRIIa-R allele. In 300 SLE patients, high binding allele combination H131/V176 was less common in SLE with nephritis than in SLE without nephritis. Hemolytic anemia was less common in R131/F176 allele combination among four FcgammaRIIa/FcgammaRIIIa allelic combinations. Male SLE patients showed a higher frequency of renal involvement, serositis, thrombocytopenia, malar rash and discoid rash than female SLE, and male SLE had a higher frequency of FcgammaRIIa-R/R131 or R131-allele than male controls, but FcgammaRIIa or FcgammaRIIIa genotypes had no association with renal involvement in male SLE patients. FcgammaRIIa-H/H131 showed a higher frequency of hemolytic anemia and less pulmonary complications in male SLE. Female SLE patients showed higher frequency of any hematologic abnormality, lymphopenia, anticardiolipin antibody (+) and anti-Ro antibody (+) than male SLE, and had earlier onset of first symptoms. There was no skewing in FcgammaRIIa or FcgammaRIIIa genotypes between female SLE and female controls, but FcgammaRIIa-R131 allele showed skewing between female SLE with nephritis and female SLE without nephritis. The age at onset of thrombocytopenia was earlier in FcgammaRIIa R/R131 among three FcgammaRIIa genotypes, and serositis in FcgammaRIIIa-F/F176 among three FcgammaRIIIa genotypes. FcgammaRIIa-R131 homozygote was a major predisposing factor to the development of SLE and FcgammaRIIa-RI31 homozygote and R131 allele were a predisposing factor, and H131/V176 was a protective allele combination in lupus nephritis. In contrast to other ethnic patients, in our study cohort, clinical manifestation was different between male and female, and FcgammaRIIa and FcgammaRIIIa showed somewhat different clinical associations between the genders.
Lupus 2001
PMID:FcgammaRIIa/IIIa polymorphism and its association with clinical manifestations in Korean lupus patients. 1148 Aug 43

The serologic and clinical features of patients from pedigrees multiplex for systemic lupus erythematosus (SLE) were evaluated among three ethnic groups: Hispanics, African-Americans and European-Americans. Data were obtained from a registry of 123 pedigrees, composed of 4 Hispanic, 40 African-American and 79 European-American pedigrees. All patients met at least four criteria for the diagnosis of SLE per the American College of Rheumatology. Clinical information was obtained through review of the medical records and questionnaires completed by the participants. Ethnicity by self-identification was found to be an important factor influencing the prevalence of serologic results and clinical features. Anti-nRNP occurred more frequently in African-Americans (45.7%) than in European-Americans (7.5%) or Hispanics (0%) (p<0.0000001), as did anti-Sm (18.5% vs 1.6% and 0%, respectively) (p<0.000001). Malar rash, photosensitivity and oral ulcers were most frequent in the Hispanic population while proteinuria and leukopenia predominated in the African-American population. Arthritis and lymphopenia were present in a similar proportion in all ethnic groups. These results show that many of the ethnic differences known for isolated cases of SLE are also present in familial cases of SLE.
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PMID:Familial systemic lupus erythematosus: a comparison of clinical manifestations and antibody presentation in three ethnic groups. 1183 71

We examined the prevalence of clinical and immunologic features of systemic lupus erythematosus (SLE) by race, sex and age in a population-based study of 265 SLE patients. Patients fulfilled the American College of Rheumatology classification criteria. The median time between diagnosis and study enrollment was 13 months. The clinical and hematologic data were limited to occurrences up to 6 months after the diagnosis date, as documented in medical records. We used sera collected at study enrollment from 244 (92%) patients for serologic testing of autoantibodies. The associations between clinical and immunological features of SLE and age, sex and race were examined using logistic regression. The effect of each of these variables was examined adjusting for the other two demographic factors. Mean age at diagnosis was 6 years younger among African-Americans and other minorities compared with white patients (P < 0.01). Discoid lupus, proteinuria, anti-Sm and anti-RNP autoantibodies were more commonly seen in African-American patients, with odds ratios higher than 3.0. Photosensitivity and mucosal ulcers were noted less often in African-American patients. Proteinuria, leukopenia, lymphopenia and thrombocytopenia were approximately three times more common in men compared with women. The prevalence of oral or nasal ulcers and anti-DNA autoantibodies declined with age. The extent to which the differences we observed reflect genetic or environmental influences on the disease process should be investigated.
Lupus 2002
PMID:Differences by race, sex and age in the clinical and immunologic features of recently diagnosed systemic lupus erythematosus patients in the southeastern United States. 1199 80

Adenosine deaminase (ADA) is an enzyme involved in purine metabolism and has a major role in the development and function of lymphoid cells. Congenital deficiency of ADA results in severe immunodeficiency. Patients with congenital ADA deficiency treated with polyethylene glycol-conjugated bovine ADA develop antibodies to ADA. This leads us to investigate the role of anti-ADA antibodies in patients with systemic rheumatic diseases. Commercially available ADA was used in ELISA and immunoblots for detection of anti-ADA antibodies. Four out of 100 patients examined were positive for anti-ADA antibodies. Two of them had peripheral blood lymphopenia but the antibody levels did not appear to correlate with the lymphocyte counts. Immunoblotting revealed that the antibodies recognized a 40 kDa peptide of ADA, corresponding to ADA1, the major component of ADA. Affinity-purified antibodies were used to locate the distribution of ADA on Hep-2 cells and lymphocytes by indirect immunofluorescence. Anti-ADA antibodies gave a distinct nuclear speckled pattern on acetone-fixed cells. With viable cell immunofluorescence, anti-ADA antibodies also stained the cell surface of HEp-2 cells and lymphocytes, indicating surface expression of ADA. The anti-ADA antibodies failed to gain access into the cytoplasm or nuclei when added to the cultures of HEp-2 cells. In summary, this is the first report of detection of anti-ADA1 autoantibody which is a new type of ANA with discrete, speckled nuclear staining, but which may not be associated with lymphopenia.
Lupus 2002
PMID:Anti-adenosine deaminase antibodies in lupus erythematosus. 1199 81

To evaluate lymphocyte death by neglect-apoptosis features in systemic lupus erythematosus (SLE) patients presenting with neuropsychiatric (NPSLE) involvement we studied 40 SLE patients with active disease, 20 with and 20 without neuropsychiatric manifestations, and 20 control individuals. Lymphocyte apoptosis was evaluated by means of DNA staining using flow cytometry, immediately after cell isolation and after incubation with culture medium or autologous serum. Compared with controls, NPSLE and non-NPSLE patients exhibited increased rates of neglect-apoptosis immediately after cell isolation. Only NPSLE patients exhibited an increased neglect-apoptosis rate after incubation with culture medium; however, the neglect-apoptosis rate was associated with lymphopenia in both series of patients. After lymphocyte incubation with autologous serum, only NPSLE patients exhibited a significant negative correlation between the neglect-apoptosis rate and the number of peripheral lymphocytes. The incubation of lymphocytes with autologous serum containing antiphospholipid or anti-SSA/Ro antibodies significantly increased the neglect-apoptosis in NPSLE when compared with non-NPSLE patients with a similar autoantibody profile. In conclusion, NPSLE and non-NPSLE patients shared several abnormalities in terms of lymphocyte neglect-apoptosis. Peculiar findings were observed in NPSLE patients particularly after incubation with autologous serum, such as the fact that the increased lymphocyte death by neglect-apoptosis was associated with lymphopenia and with the presence of antiphospholipid and anti-SSA/Ro antibodies.
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PMID:Increased lymphocyte death by neglect-apoptosis is associated with lymphopenia and autoantibodies in lupus patients presenting with neuropsychiatric manifestations. 1219 52

Haematological abnormalities are frequently encountered in patients with systemic lupus erythematosus (SLE). Anaemia is the most common hematological abnormality in SLE, it is multifactorial. The most common form of anaemia is that of chronic disease, and it is relate with inflammatory cytokines. Other tips of anaemia are: iron deficiency anaemia, autoimmune haemolytic anaemia, pure red cell aplasia. Leucopenia is related to neutropenia and/or lymphopenia. Thrombocytopenia is common, autoimmune and associated with a decreased survival. The presence of antiphospholipid antibodies increase risk of thrombosis in patients with SLE.
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PMID:[Hematological abnormalities in patients with systemic lupus erythematosus]. 1248

Expression of monoclonal anti-DNA antibodies in vitro can be used to study the relationships between molecular structure, binding properties and pathogenicity. Bacterial and yeast systems can be used to produce antibody fragments such as Fab. The yields are potentially sufficient to allow structural studies such as crystallization, but purification of the anti-DNA Fab from the bacterial periplasm may be challenging. Mammalian cell expression systems produce lower yields, but the products are whole antibodies, which can be used in assays of pathogenicity. This article describes some recent experiments in which bacterial and mammalian systems were used to study human monoclonal anti-DNA antibodies. Light chain sequence motifs were found to be important both in binding to antigens and in determining pathogenicity of the antibodies in severe combined immunodeficiency mice. The distribution of B cell subpopulations is disturbed in patients with systemic lupus erythematosus (SLE). These patients, like those with infectious mononucleosis, have an overall B cell lymphopenia but an increased frequency of plasmablasts/early plasma cells in their blood. Some of these early plasma cells belong to clones that have rearranged the V(H) gene V4-34. There is a selective rise in immunoglobulins encoded by this gene in both infectious mononucleosis and SLE.
Lupus 2002
PMID:Anti-DNA antibodies--structure and function. 1252 38

We have experienced a case of chronic active Epstein-Barr virus infection (CAEBV) complicated in systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome (APS). A 35-year-old woman was admitted to our hospital with complaints of fever and dyspnea on exertion. She was diagnosed as having SLE on the basis of arthritis, oropharyngeal ulcer, lymphopenia, and positive autoantibodies against DNA, RNP and SSA. The diagnosis of APS was also made because of positive anti-cardiolipin IgG antibodies and the existence of multiple pulmonary infarction with pulmonary hypertension. The administration of 30 mg/day of prednisolone and anti-coagulation significantly improved clinical symptoms. However, she was again admitted to the hospital four months later because of progressive liver damage and pancytopenia. Increment of prednisolone did not improve the clinical situation and she expired because of pulmonary hemorrhage. At autopsy, there were a significant increase of histiocytes with hemophagocytosis and a dense infiltration of atypical lymphocytes in the liver, spleen, lymph nodes and bone marrow. Infiltrated lymphocytes were positive for CD 3 and EBER 1 in immunohistochemical staining and EBVmRNA was detected by in situ hybridization. Final pathological diagnosis was CAEBV with hemophagocytic syndrome in association with lupus nephritis, pulmonary hemorrhage and pulmonary infarction.
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PMID:[An autopsied case of chronic active Epstein-Barr virus infection complicated in systemic lupus erythematosus and antiphospholipid antibody syndrome]. 1259 14

Classically, a diagnosis of systemic lupus erythematosus (SLE) is dependent on renal, rheumatological, cutaneous and neurological target organ damage with supporting serological markers. A previously healthy 26-year-old Japanese woman whose only manifestation of otherwise occult SLE was severe abdominal pain is reported. A computed tomographic scan of the abdomen revealed thickened loops of small bowel, endoscopic findings were nonspecific and jejunal biopsy revealed a nonspecific enteritis. Laboratory studies revealed lymphopenia, hypocomplementemia, a positive antinuclear antibody, a weakly positive anti-Smith and a strongly positive anti-double stranded DNA. There was a prompt symptomatic recovery with immunosuppressive therapy. The authors' experiences, and a review of the literature suggest that a diagnosis of SLE should be considered in young Asian women who present with significant but clinically enigmatic gastrointestinal illness.
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PMID:Abdominal pain as the initial and sole clinical presenting feature of systemic lupus erythematosus. 1260 48


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