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)

We describe a patient with X-linked chronic granulomatous disease (CGD) who developed systemic lupus erythematosus, which was characterized by photosensitivity, malar rash, glomerulonephritis, leukopenia, hypocomplementemia, antinuclear antibodies, and anti-double-stranded DNA antibodies, at age 3. The patient's mother is an asymptomatic carrier of CGD, and her other son (the patient's half-brother) also has CGD. Neither the mother nor the brother has clinical or serologic evidence of systemic lupus erythematosus. Previous cases of discoid lupus-like skin lesions have been reported both in carriers and in patients with CGD. Our patient represents the first reported case of an individual with convincing clinical, serologic, and pathologic evidence of systemic lupus erythematosus. The association between defective host defense mechanisms and autoimmune phenomena has been described previously in patients with Job's syndrome and in patients with B cell and T cell deficiency disorders, including the acquired immunodeficiency syndrome. The relationship between the known leukocyte defects in CGD and the pathogenesis of a lupus-like illness is unclear.
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PMID:Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature. 198 66

Inherited deficiencies of classical pathway complement components are rare and associated with autoimmune diseases and with increased susceptibility to bacterial infections. We report the clinical evolution and studies of the complement system in a 17-year-old female patient of Swiss origin presenting with systemic lupus erythematosus (malar rash, photosensitivity, leukopenia and antinuclear antibodies), in whom the hemolytically active second complement component (C2) was less than 10% of the normal value and antigenic C2 was not detectable. Linkage studies showed that the patient is HLA-A25, B18 positive and has the slow factor B allotype BfS. Further immunological assessment revealed low IgG4 concentrations in the patient, who had the G2M(23) allotype. The asymptomatic first degree family members had half-normal C2 levels compatible with a heterozygous state of C2 deficiency. Therapy with hydroxychloroquine for 17 months and topical sunscreen preparations produced marked clinical improvement. During the 4 years of follow-up, the patient has been well and shown only an abnormal titer of antinuclear antibodies. No infections were observed. To the best of our knowledge, 99 cases of homozygous C2 deficiency have been described so far and are discussed here.
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PMID:[Systemic lupus erythematosus associated with homozygous C2 deficiency. Apropos of a case report and literature review]. 202 45

The aim of this study was to investigate which patients with systemic lupus erythematosus (SLE) are prone to develop more than one exacerbation, and to establish the variability in the clinical symptoms during exacerbations as compared with the initial symptoms of the disease. At disease origin, photosensitivity, pleuritis and Raynaud's phenomenon were slightly increased in the patients with a stable disease, while pericarditis was rarely seen in patients with a remitting disease course. In this prospective study it was clearly shown that during the disease course, depending on the exacerbation frequency, an increasing number of organs were involved. Striking features were the increase in haematological abnormalities in the third exacerbation, and the fact that psychosis and seizures did not recur in the second exacerbation when they were diagnosed in the preceding period. We also showed that symptoms seen in an exacerbation may be quite different from those seen in a previous exacerbation.
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PMID:Systemic lupus erythematosus--changing disease patterns in the disease course. Dutch experience with 110 patients studied prospectively. 204 82

The determination of serum AchrA in patients with SLE(43) and other rheumatic diseases (ODRs, 109) and in 42 normal individuals was measured by indirect immunofluorescence assay (IIF) using the polytene chromosomes of the third instar larva of Drosophila melanogaster as the substrate. The results showed that the serum AchrA was negative in all of the 42 normal individuals and the 109 patients with ORDs and the AchrA was positive in 19 (44%) of the patients with SLE. The patients with active SLE were found in 16 (84%) of the 19 AchrA positive group and 13 (54%) of the 24 AchrA negative group. The incidence of arthritis/arthralgia, photosensitivity, glomerulonephritis and anemia in the SLE patients were higher in the AchrA positive group than those in the AchrA negative group. In contrast, the patients with nephrotic syndrome were more common in the AchrA negative group than in the AchrA positive group. It is suggested that serum AchrA is extremely specific and more sensitive for SLE and that the finding of positive AchrA are usually associated with activity of SLE and renal involvement.
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PMID:[Serum anti-polytene chromosomes of Drosophila melanogaster antibody (AchrA) and systemic lupus erythematosus]. 212 58

Autoantibodies to the non-histone nucleoprotein antigens SS-A/Ro, SS-B/La, and RNP are highly associated with photosensitive cutaneous lupus erythematosus (LE). In order to better understand the potential mechanisms of ultraviolet (UV) light on photosensitivity in patients with cutaneous LE, we designed immunopathologic in vitro and in vivo experiments to evaluate the effects of UV on the binding of such autoantibodies to the surface of human keratinocytes, one major target of immunologic damage in photosensitive LE. Short-term 2% paraformaldehyde fixation of suspensions of cultured human keratinocytes previously incubated with monospecific antiserum probes enabled the detection of ENA expression on the cell surface by flow-cytometry analysis. UVB light (280-320 nm) induced the binding of monospecific antibody probes for SS-A/Ro and SS-B/La on keratinocytes in a dose-dependent pattern with maximal induction observed at the dose of 200 mJ/cm2 UVB. Binding of SS-A/Ro, SS-B/La, and RNP antibody was augmented strongly, but binding of anti-Sm was very weak. In contrast, UVA (320-400 nm) light had no effect on the induction of binding of these antibody probes. Identical results were seen by standard immunofluorescence techniques. Hydroxyurea-treated keratinocytes showed similar induction of those antigens by UVB irradiation, which suggested that ENA expression on cultured keratinocytes by UVB were cell-cycle independent. Tunicamycin, an inhibitor of glycosylation of proteins, reduced UVB light effect on the SS-A/Ro and SS-B/La antigen's expression. These in vitro FACS analyses revealed that ENA augmentation on the keratinocyte cell surface was dose dependent, UVB dependent, glycosylation dependent, and cell-cycle independent. In vivo ENA augmentation on the keratinocyte surface was examined in suction blister epidermal roofs. Specific antibody probes for SS-A/Ro, SS-B/La, RNP, and Sm bound to human keratinocytes in intact suction blister epidermis following UVL irradiation in vivo. Using three different protocols, we have demonstrated that antibodies to SS-A/Ro, SS-B/La, and U1RNP bind to UVL-irradiated human keratinocytes. We speculate that this antibody binding is an important inducer of antibody dependent keratinocyte damage in photosensitive cutaneous lupus.
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PMID:Binding of antibodies to the extractable nuclear antigens SS-A/Ro and SS-B/La is induced on the surface of human keratinocytes by ultraviolet light (UVL): implications for the pathogenesis of photosensitive cutaneous lupus. 187 59

Photosensitivity is one of the criteria of the American Rheumatism Association for the diagnosis of systemic lupus erythematosus. Although UV irradiation is a major factor in the pathogenesis of photosensitive cutaneous lupus erythematosus, so far the exact pathomechanism is unknown. The following review presents historical, clinical and experimental data on the photobiology of cutaneous lupus erythematosus.
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PMID:[Photobiology of lupus erythematosus]. 218 Aug 56

A distinctive photodermatitis developed in 22 children who had been receiving naproxen for prolonged periods. The eruption was marked by erythema, vesiculation, or increased skin fragility characterized by easy scarring of sun-exposed skin. Results of biochemical studies for porphyria were normal, and other causes of photosensitivity were believed to be unlikely. Of the 22 patients, 21 had juvenile rheumatoid arthritis; one patient had systemic lupus erythematosus. Twenty of the patients had fair skin and blue eyes. In each case, all findings except scarring resolved when naproxen was discontinued. Attention must be paid to complaints suggesting photosensitivity in children receiving naproxen.
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PMID:Naproxen-induced pseudoporphyria: a distinctive photodermatitis. 221 98

Homozygous C4A deficiency was found at a prevalence of 16% (13/80 patients) in systemic lupus erythematosus (SLE). The patients represented all diagnosed cases retrieved from a defined population in Southern Sweden, which minimizes the influence of patient selection. Photosensitivity was more common among C4A-deficient patients than among other SLE patients (p less than 0.05). Otherwise, clinical features were similar in the two groups. In addition, no differences were found with regard to presence of various autoantibodies (anti-dsDNA, anti-Sm, anti-RNP, anti-SSA, anti-SSB, rheumatoid factors and anti-cardiolipin). In patients expressing both C4A and C4B isotypes, C4B/C4A quotients were fairly stable in plasma irrespective of disease activity. This argues against preferential break-down of either isotype during complement activation in the disease. The increased photosensitivity of C4A-deficient patients partly resembles the findings in patients with complete deficiencies of classical pathway components.
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PMID:Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population. 228 15

The identification of differences in the clinical manifestations of systemic lupus erythematosus (SLE) due to racial and socioeconomic factors has been hampered in previous studies by limitations in the numbers of black patients examined. We sought to define racial differences in the cumulative clinical manifestations of SLE in a large, racially balanced cohort (184 black patients and 174 white patients). Differences in the cumulative disease manifestations of SLE between black and white patients were evaluated by multivariate regression techniques, controlling for socioeconomic status and the potential confounding factors of age, gender, duration of follow-up, and treatments. Race was found to be an important factor influencing the prevalence of 9 of 24 clinical features of SLE. As a group, blacks more commonly manifested anti-Sm and anti-RNP antibodies, discoid skin lesions, and proteinuria, and less commonly manifested photosensitivity, than whites. Among specific age, gender, and socioeconomic subgroups, blacks were more likely than whites to have had psychosis, serositis, and urinary cellular casts, and less likely to have had sicca syndrome. Racial differences in the prevalence of renal failure were due to socioeconomic effects. These results suggest that race is under-recognized as a factor influencing the clinical heterogeneity of SLE.
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PMID:Clinical manifestations of systemic lupus erythematosus. Identification of racial and socioeconomic influences. 232 45

Photosensitivity associated with lupus erythematosus (LE) is well established. The photobiologic basis for this abnormal response to ultraviolet radiation, however, has not been determined. This paper summarizes the criteria for elucidating possible photobiologic mechanisms and reviews the literature relevant to the mechanism of photosensitivity in LE. In patients with LE, photosensitivity to wavelengths shorter than 320 nm has been demonstrated; wavelengths longer than 320 nm have not been adequately evaluated. DNA is a possible chromophore for photosensitivity below 320 nm. UV irradiation of skin produces thymine photodimers in DNA. UV-irradiated DNA is more antigenic than native DNA and the antigenicity of UV-irradiated DNA has been proposed, but not proven, to be involved in the development of clinical lesions. UV irradiation of mice previously injected with anti-UV-DNA antibodies produces Ig deposition and complement fixation that appears to be similar to the changes seen in lupus lesions. Antibodies to UV-irradiated DNA occur in the serum of LE patients although a correlation between antibody titers and photosensitivity was not observed. Defective repair of UV-induced DNA damage does not appear to be a mechanism for the photosensitivity in LE. Other mechanisms must also be considered. The chromophore for photosensitivity induced by wavelengths longer than 320 nm has not been investigated in vivo. In vitro studies indicate that 360-400 nm radiation activates a photosensitizing compound in the lymphocytes and serum of LE patients and causes chromosomal aberrations and cell death. The mechanism appears to involve superoxide anion. Further research is required to establish the action spectrum for long wavelength photosensitivity in vivo and to elucidate the mechanisms for the photosensitivity at all wavelengths.
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PMID:Action spectrum and mechanisms of UV radiation-induced injury in lupus erythematosus. 240 82


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