NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene

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Arquivos
art_TORRES_NK_and_B_cell_deficiency_in_a_MPS_2014.PDF (613.43 KB)
Citações na Scopus
4
Tipo de produção
article
Data de publicação
2014
DOI
Scopus
Web of Science
Título da Revista
ISSN da Revista
Título do Volume
Editora
ACADEMIC PRESS INC ELSEVIER SCIENCE
Autores
Citação
CLINICAL IMMUNOLOGY, v.154, n.2, p.100-104, 2014
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. Whereas the lysosome is essential to the functioning of the immune system, some authors suggest that the MPS patients have abnormalities in the immune system similar to the patients with primary immunodeficiency. In this study, we evaluated 8 male MPS type II patients of the same family with novel mutation in the IDS gene. We found in this MPS family a quantitative deficiency of NK and B cells with normal values of IgG, IgM and IgA serum antibodies and normal response to polysaccharide antigens. Interestingly, abnormalities found in these patients were not observed in other MPS patients, suggesting that the type of mutation found in the IDS gene can be implicated in the immunodeficiency.
Palavras-chave
Mucopolysaccharidoses, NK cells, B cells, Immunodeficiency, Autoimmunity
URI
https://observatorio.fm.usp.br/handle/OPI/8560
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/03
Artigos e Materiais de Revistas Científicas - LIM/36
Artigos e Materiais de Revistas Científicas - ODS/03