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The Charcot-Mane-Tooth disease type 1A (CMTlA) phenotype is most often associated with a 1.5 megabase (mb), tandem duplication of chromosome 17 band p12 (17˜12). The prevailing hypothesis is that the demyelinating neuropathy results from a dosage effect of the peripheral myelin protein gene PMP22 which is included within this duplication. We present a patient with clinical and electrophysiological features ofCMTlA in whom an extra PMP22 gene resulted from a rare unbalanced translocation of 17p to the X chromosome. This finding further supports the hypothesis of gene dosage as the basis for CMTlA. More-over, this case highlights the importance of fluorescence in siiu hybridization (FISH) as an alternative molecular technique in the diagnosis of CMTlA. 相似文献
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Inhibition of the Mixed Lymphocyte Culture Response by Antibody Following Successful Human Renal Transplantation 总被引:7,自引:0,他引:7
Immunoglobulin G, appearing after several months in the serum of a recipient of a successful kidney transplant from a closely matched sibling donor, was demonstrated to progressively inhibit unidirectional mixed lymphocyte cultures when donor lymphocytes were used either in responding or stimulating cell populations. The active recipient IgG had no effect in cultures in which donor cells were not used, nor did IgG obtained from other individuals show nonspecific inhibitory effects on cultures containing donor cells. It is suggested that the MLC inhibitory immunoglobulin may serve an immunoregulatory function after renal transplantation. 相似文献
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J. Kalden K. James W. G. Williamson W. J. Irvine 《Clinical and experimental immunology》1969,5(6):597-606
The autoallergic thyroiditis produced in rats by the injection of rat thyroglobulin in Freund's complete adjuvant can be suppressed by the administration of the IgG immunoglobulin fraction of heterologous (horse) anti-lymphocytic serum when treatment is started immediately after the antigen injection. In contrast anti-lymphocytic IgG failed to prevent the development of thyroiditis when given only 4 hr after the antigen nor did it show any suppressive effect on previously induced thyroiditis. Similar results were obtained when anti-lymphocytic IgG treatment was tested for its effect on the primary immune response to rat thyroglobulin. 相似文献
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Spontaneous suppressor cell activity in the peripheral blood of patients with malignant and chronic inflammatory bowel diseases. 总被引:1,自引:0,他引:1
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K Doldi B Manger B Koch J Riemann P Hermanek J R Kalden 《Clinical and experimental immunology》1984,55(3):655-663
Fifteen patients with colorectal tumours, 15 patients with Crohn's disease (CD) and two groups of normal controls were investigated for the presence of spontaneous suppressor cell activity (SSCA) in peripheral blood mononuclear cells (PBMC). In comparison to the age and sex matched controls patients with colorectal carcinoma exhibited a significant increase in SSCA (P less than 0.01). No evidence could be obtained that the suppressive effect was due to a soluble factor such as prostaglandins. In contrast, patients suffering from CD presented a decreased SSCA. No correlation was obtained between the enhanced SSCA in tumour patients and the clinical stage of the disease, levels of oncofetal antigens or serum immune complexes. Likewise in patients with CD no correlation was found between decreased SSCA and CD index or different serum parameters. When PBMC of the different test groups were incubated with histamine or cimetidine before they were added to the indicator system the suppressive activity remained unchanged. Also pre-incubation of normal PBMC with alpha-fetoprotein or carcinoembryonic antigen did not change the spontaneous suppressor cell activity. Whether the significantly enhanced in vivo activity of spontaneous suppressor cells in patients with colorectal carcinoma is one of the multifactorial mechanisms leading to the establishment of cancer or whether it rather represents a reflection of the immune system on colorectal tumour antigens remains unsolved. 相似文献
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Life expectancy in British Marfan syndrome populations 总被引:2,自引:0,他引:2
JR Gray AB Bridges RR West L. McLeish AG Stuart JCS Dean MEM Porteous M. Boxer SJ Davies 《Clinical genetics》1998,54(2):124-128
A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970–1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3 ± 16.5 years. 50% median cumulative survival in the total cohort (n = 206) was 53 years for males and 72 years for females. Multivariate analysis confirmed severity as the best independent indicator of survival. These findings and survival curves will assist in the counselling of British families and individuals with Marfan syndrome. 相似文献