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

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorTORRES, Leuridan Cavalcante
dc.contributor.authorSOARES, Diogo Cordeiro de Queiroz
dc.contributor.authorKULIKOWSKI, Leslie Domenici
dc.contributor.authorFRANCO, Jose Francisco
dc.contributor.authorKIM, Chong Ae
dc.date.accessioned2015-02-06T19:45:53Z
dc.date.available2015-02-06T19:45:53Z
dc.date.issued2014
dc.description.abstractThe 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.
dc.description.indexMEDLINE
dc.description.sponsorshipSao Paulo Research Foundation (FAPESP) [2010/52694-8]
dc.identifier.citationCLINICAL IMMUNOLOGY, v.154, n.2, p.100-104, 2014
dc.identifier.doi10.1016/j.clim.2014.07.001
dc.identifier.eissn1521-7035
dc.identifier.issn1521-6616
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/8560
dc.language.isoeng
dc.publisherACADEMIC PRESS INC ELSEVIER SCIENCE
dc.relation.ispartofClinical Immunology
dc.rightsrestrictedAccess
dc.rights.holderCopyright ACADEMIC PRESS INC ELSEVIER SCIENCE
dc.subjectMucopolysaccharidoses
dc.subjectNK cells
dc.subjectB cells
dc.subjectImmunodeficiency
dc.subjectAutoimmunity
dc.subject.othernatural-killer-cells
dc.subject.otherintracellular pathogens
dc.subject.otherantigen presentation
dc.subject.othersecretory lysosomes
dc.subject.otheradaptive immunity
dc.subject.otherhunter-syndrome
dc.subject.othert-cells
dc.subject.otherikaros
dc.subject.otherspecificity
dc.subject.otheractivation
dc.subject.wosImmunology
dc.titleNK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.citation.scopus4
hcfmusp.contributor.author-fmusphcLEURIDAN CAVALCANTE TORRES
hcfmusp.contributor.author-fmusphcDIOGO CORDEIRO DE QUEIROZ SOARES
hcfmusp.contributor.author-fmusphcLESLIE DOMENICI KULIKOWSKI
hcfmusp.contributor.author-fmusphcJOSE FRANCISCO DA SILVA FRANCO
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.description.beginpage100
hcfmusp.description.endpage104
hcfmusp.description.issue2
hcfmusp.description.volume154
hcfmusp.origemWOS
hcfmusp.origem.scopus2-s2.0-84905247508
hcfmusp.origem.wosWOS:000341959300002
hcfmusp.publisher.citySAN DIEGO
hcfmusp.publisher.countryUSA
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