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)

A patient with systemic lupus erythematosus was studied whose blood serum on repeated occasions showed undetectable levels of haemolytic omplement (C). A detailed investigation of individual C components in the serum of the proposita and her family revealed the absence of functional C2 in the patient and half-normal values in the relatives. C4 levels in the family, but not in the patient, were above normal, whereas the levels of factor B were low in all cases. No abnormalities were noted in C3, C9, or C1INH. Tissue typing showed linkage of the C2-deficiency gene with the HLA-A10/B18 and A9/B18 haplotypes. No linkage with red cell antigens and no relationship with plasma kallikrein levels was found.
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PMID:HLA-linked C2 deficiency in a Dutch patient with systemic lupus erythematosus. 46 9

A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a combination of genetically determined low normal C4 and increased consumption/hyposynthesis secondary to her SLE.
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PMID:Genetic basis of acquired C4 deficiency. 51

The most prominent association of rheumatic diseases with hereditary complement deficiency is systemic lupus erythematosus (SLE) and discoid lupus erythematosus with homozygous C2 deficiency in females. The lupus disease in these patients differ from classic lupus in 1) the increased incidence of discoid lesions, 2) the low incidence of renal disease, 3) the low or absent titers of antibodies to native DNA, and 4) the infrequent finding of immunoglobulin and complement in skin lesions. The strong positive linkage disequilibrium between C2 deficiency and HLA genes raises the possibility that genes other than those determining C2 levels may have the primary role in determining predisposition to disease in these patients. However, the finding of similar diseases in certain patients with hereditary angioedema and SLE-related syndrome who have acquired deficiency of the early components of complement supports a primary role of the C2 deficiency gene in predisposing to lupus disease in these patients.
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PMID:Association of systemic lupus erythematosus and SLE-like syndromes with hereditary and acquired complement deficiency states. 66 79

Forty-four patients with systemic lupus erythematosus (SLE) were classified as mild or more severe on the basis of renal biopsy changes and the degree of proteinuria. The HLA phenotype A2 plus B7 was associated with the mild cases, while A1 plus B8 was associated with more severe disease. These findings suggest that immunogenetic factors are important in determining the severity of SLE and that combinations of HLA-A and -B locus antigens may be significant in HLA disease associations.
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PMID:HLA in systemic lupus erythematosus: influence on severity. 69 14

We report herein a new case of C2 deficiency in a patient with systemic lupus. The subject and one of her brothers, who shows no clinical manifestations, are hymozygous C2 deficient. All other family members are heterozygous for the C2 deficiency. Gene for C2 deficiency (C2d) was shown to be inherited with HLA-A9, B7/Bfs and HLA-A10, B27/Bfs haplotypes. This association has not previously been described.
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PMID:Selective deficiencies in complement component : a family with hereditary C2 deficiency. 69 38

Forty-five patients suffering from systemic lupus erythematosus were studied in respect of their serologically defined HLA antigens. HLA-B8 antigen was found in 37-8% of patients as compared to 22% of controls. Individuals carrying the HLA-B8 antigen have a 2-15 times greater risk of developing systemic lupus erythematosus than those not carrying this antigen.
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PMID:HLA antigens in systemic lupus erythematosus. 84 16

A study of histocompatibility (HLA) antigens in 69 patients with discoid lupus erythematosus (DLE) showed an increased incidence of HLA-B7 and HLA-B8 related to the age at onset and sex of the patient. Young females and males aged 15-39 years at onset were associated with HLA-B7 and females aged over 40 years with HLA-B8. This supports previous studies concerning sex and age specific onset rates in DLE which suggests that there is more than one genotype in this disorder. Female patients with systemic lupus erythematosus (SLE) at all ages of onset showed a significant association with HLA-B8. Female patients, with onset 15-39 years, with either SLE or DLE which has transformed to SLE, show a significant increase in HLA-B8 compared with the females in the same age onset group who have the discoid disease. The presence of HLA-B8 in a young female with DLE may represent a risk factor for the development of the systemic disease.
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PMID:Histocompatibility antigens in discoid and systemic lupus erythematosus. 84 48

A 56-yr-old black woman with absence of the eighth component of complement and a disease compatible with systemic lupus erythematosus is described. Her disease is characterized by the presence of photosensitive "malar" rash, alopecia, polyarthritis, and nephrotic syndrome. Hemolytic and immunochemical assays of the serum complement components were normal, except for C8 which was undetectable. Hemolytic activity could be restored to normal by the addition of functionally pure C8. In vitro tests to investigate the functional integrity of the classical and alternative pathways indicated that the functions mediated by activation of C3 and C5 were intact whereas heatlabile bactericidal activity was totally absent. Addition of C8 restored this function to normal levels. One of two brothers of the proband was shown to have serum C8 levels approaching 50% of normal indicating the hereditary nature of the defect. HLA typing studies showed that the normal brother had identical haplotypes to the proband while the proposed heterozygous brother only shared one haplotype with the patient, suggesting that the gene controlling the C8 defect was not closely linked to the major histocompatibility complex. If the association of a connective tissue disease and absence of a terminal component of complement is not coincidental, these results suggest that C8 deficiency may be associated with a subtle defect in the defense mechanisms to viral infection leading to viral persistance and perhaps to diseases such as systemic lupus erythematosus where chronic viral infections have been implicated.
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PMID:Absence of the eighth component of complement in association with systemic lupus erythematosus-like disease. 89 74

A case of systemic lupus erythematosus associated with an homozygous deficiency in the second fraction of complement is reported and compared to previous reports of the literature. The high incidence of infections in these patients is outlined. The defective gene in this family was associated with the HLA A10B18 haplotype and the propositus was homozygous at the HLA-D locus. Familial study allowed the detection of 3 heterozygous individuals two of them being symptomatic (vascular purpura, high incidence of bacterial infections).
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PMID:[Hereditary C2 deficiency with systemic lupus erythematosus: clinical and immunologic studies in a family (author's transl)]. 92 48

The prevalence of homozygous and heterozygous deficiency of the second component of complement (C2) was determined in patients with rheumatic disease including 137 with systemic lupus erythematosus (SLE), 274 with juvenile rheumatoid arthritis, and 134 with rheumatoid arthritis. 1 C2 homozygous deficient and 19 possible heterozygous deficient individuals were identified by using both immunochemical and functional assays to determine C2 levels. Of the 20, 8 had SLE (5.9%), 10 had juvenile rheumatoid arthritis (3.7%), and 2 had rheumatoid arthritis (1.4%), the homozygous deficient individual having SLE. The prevalence of C2 deficiency in the SLE and juvenile rheumatoid arthritis patients was significantly increased (P = 0.0009 and P = 0.02, respectively) when compared with controls, 6 (1.2%) of 509 blood donors having C2 levels consistent with heterozygous deficiency. 15 of the 20 C2 deficient patients were HLA typed and found to have antigens A10(Aw25), B18, or both. The patients with C2 deficiency and SLE had earlier age of onset of disease and less antinuclear antibody when compared with the C2 normal SLE patients. 11 families of the propositi were studied and found to have one or more C2 heterozygous deficient individuals. The family members had an equal distribution of rheumatic disease and antinuclear antibody in the C2 deficient and C2 normal groups. C2 deficient individuals were found to have significantly lower levels of properdin Factor B (242 mug/ml+/-54) when compared with the non-C2 deficient family members (282 mug/ml+/-73). These data support the concept that inherited deficiency of C2 is significantly associated with both SLE and juvenile rheumatoid arthritis.
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PMID:Inherited deficiency of the second component of complement. Rheumatic disease associations. 96 92


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