T cell numbers relate to bone involvement in Gaucher disease
Main Author: | |
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Publication Date: | 1999 |
Other Authors: | , , , , , , , , , , |
Format: | Article |
Language: | eng |
Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Download full: | http://hdl.handle.net/10400.16/545 |
Summary: | Blood Cells Mol Dis. 1999 Apr;25(2):130-8. T cell numbers relate to bone involvement in Gaucher disease. Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Department of Genetics Neurobiology, Porto University, Portugal. Abstract The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast function, resulting in osteopenia and also osteonecrosis. T lymphocytes have recently been found to be involved in the regulation of osteoblast/osteoclast activity in vitro. In the present report the peripheral blood T major lymphocyte subsets were investigated in a group of genotyped type 1 Gaucher disease patients. A total of 31 patients were studied: 21 non-splenectomized (5 N370S homozygotes) and 10 splenectomized (of whom 1 was a N370S homozygote). The results show that non-splenectomized patients present a decrease in absolute numbers of peripheral blood T lymphocytes, specially the CD4+ T subset. However, when patients were analyzed with respect to the presence of bone disease, the number of CD8+ T lymphocytes was found to be statistically significantly lower in patients presenting bone involvement. Furthermore, lower numbers of CD8+ T lymphocytes were significantly correlated with higher levels of plasma tartrate resistant acid phosphatase (TRAP) activity, a putative marker of osteoclast cell activity. These in vivo findings are in agreement with the results reached in vitro by others. They provide an additional marker of disease severity in Gaucher disease. In the group of genotyped Gaucher disease patients, the majority of the N370S homozygous patients presented a clinically milder phenotype, including the absence of bone involvement, confirming earlier reports predicting that a number of these patients may remain undiagnosed. Collectively the homozygosity for the N370S mutation and normal T cell numbers may provide additional markers for the clinical heterogeneity of Gaucher disease. PMID: 10389595 [PubMed - indexed for MEDLINE |
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T cell numbers relate to bone involvement in Gaucher diseaseBlood Cells Mol Dis. 1999 Apr;25(2):130-8. T cell numbers relate to bone involvement in Gaucher disease. Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Department of Genetics Neurobiology, Porto University, Portugal. Abstract The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast function, resulting in osteopenia and also osteonecrosis. T lymphocytes have recently been found to be involved in the regulation of osteoblast/osteoclast activity in vitro. In the present report the peripheral blood T major lymphocyte subsets were investigated in a group of genotyped type 1 Gaucher disease patients. A total of 31 patients were studied: 21 non-splenectomized (5 N370S homozygotes) and 10 splenectomized (of whom 1 was a N370S homozygote). The results show that non-splenectomized patients present a decrease in absolute numbers of peripheral blood T lymphocytes, specially the CD4+ T subset. However, when patients were analyzed with respect to the presence of bone disease, the number of CD8+ T lymphocytes was found to be statistically significantly lower in patients presenting bone involvement. Furthermore, lower numbers of CD8+ T lymphocytes were significantly correlated with higher levels of plasma tartrate resistant acid phosphatase (TRAP) activity, a putative marker of osteoclast cell activity. These in vivo findings are in agreement with the results reached in vitro by others. They provide an additional marker of disease severity in Gaucher disease. In the group of genotyped Gaucher disease patients, the majority of the N370S homozygous patients presented a clinically milder phenotype, including the absence of bone involvement, confirming earlier reports predicting that a number of these patients may remain undiagnosed. Collectively the homozygosity for the N370S mutation and normal T cell numbers may provide additional markers for the clinical heterogeneity of Gaucher disease. PMID: 10389595 [PubMed - indexed for MEDLINEUnknownRepositório Científico do Centro Hospitalar Universitário de Santo AntónioLACERDA, L.AROSA, F.A.LACERDA, R.CABEDA, J.PORTO, G.AMARAL, O.Fortuna, A.PINTO, R.OLIVEIRA, P.MCLAREN, C.E.SA MIRANDA, C.DE SOUSA, M.2011-03-02T12:31:57Z1999-041999-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/545eng1079-9796info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T10:52:55Zoai:repositorio.chporto.pt:10400.16/545Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:36:40.695681Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
T cell numbers relate to bone involvement in Gaucher disease |
title |
T cell numbers relate to bone involvement in Gaucher disease |
spellingShingle |
T cell numbers relate to bone involvement in Gaucher disease LACERDA, L. |
title_short |
T cell numbers relate to bone involvement in Gaucher disease |
title_full |
T cell numbers relate to bone involvement in Gaucher disease |
title_fullStr |
T cell numbers relate to bone involvement in Gaucher disease |
title_full_unstemmed |
T cell numbers relate to bone involvement in Gaucher disease |
title_sort |
T cell numbers relate to bone involvement in Gaucher disease |
author |
LACERDA, L. |
author_facet |
LACERDA, L. AROSA, F.A. LACERDA, R. CABEDA, J. PORTO, G. AMARAL, O. Fortuna, A. PINTO, R. OLIVEIRA, P. MCLAREN, C.E. SA MIRANDA, C. DE SOUSA, M. |
author_role |
author |
author2 |
AROSA, F.A. LACERDA, R. CABEDA, J. PORTO, G. AMARAL, O. Fortuna, A. PINTO, R. OLIVEIRA, P. MCLAREN, C.E. SA MIRANDA, C. DE SOUSA, M. |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
LACERDA, L. AROSA, F.A. LACERDA, R. CABEDA, J. PORTO, G. AMARAL, O. Fortuna, A. PINTO, R. OLIVEIRA, P. MCLAREN, C.E. SA MIRANDA, C. DE SOUSA, M. |
description |
Blood Cells Mol Dis. 1999 Apr;25(2):130-8. T cell numbers relate to bone involvement in Gaucher disease. Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Department of Genetics Neurobiology, Porto University, Portugal. Abstract The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast function, resulting in osteopenia and also osteonecrosis. T lymphocytes have recently been found to be involved in the regulation of osteoblast/osteoclast activity in vitro. In the present report the peripheral blood T major lymphocyte subsets were investigated in a group of genotyped type 1 Gaucher disease patients. A total of 31 patients were studied: 21 non-splenectomized (5 N370S homozygotes) and 10 splenectomized (of whom 1 was a N370S homozygote). The results show that non-splenectomized patients present a decrease in absolute numbers of peripheral blood T lymphocytes, specially the CD4+ T subset. However, when patients were analyzed with respect to the presence of bone disease, the number of CD8+ T lymphocytes was found to be statistically significantly lower in patients presenting bone involvement. Furthermore, lower numbers of CD8+ T lymphocytes were significantly correlated with higher levels of plasma tartrate resistant acid phosphatase (TRAP) activity, a putative marker of osteoclast cell activity. These in vivo findings are in agreement with the results reached in vitro by others. They provide an additional marker of disease severity in Gaucher disease. In the group of genotyped Gaucher disease patients, the majority of the N370S homozygous patients presented a clinically milder phenotype, including the absence of bone involvement, confirming earlier reports predicting that a number of these patients may remain undiagnosed. Collectively the homozygosity for the N370S mutation and normal T cell numbers may provide additional markers for the clinical heterogeneity of Gaucher disease. PMID: 10389595 [PubMed - indexed for MEDLINE |
publishDate |
1999 |
dc.date.none.fl_str_mv |
1999-04 1999-04-01T00:00:00Z 2011-03-02T12:31:57Z |
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info:eu-repo/semantics/publishedVersion |
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http://hdl.handle.net/10400.16/545 |
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1079-9796 |
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