title: NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.
abstract: 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.
authors.affiliation: Translational Research Laboratory Prof. C. A. Hart, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil; Medical Investigation Laboratory (LIM 36), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil. Electronic address: leuridan.torres@gmail.com.
authors.forename: Leuridan Cavalcante
authors.initials: LC
authors.lastname: Torres
authors.affiliation: Translational Research Laboratory Prof. C. A. Hart, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil; Medical Genetics Unit, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Diogo Cordeiro de Queiroz
authors.initials: DC
authors.lastname: Soares
authors.affiliation: Department of Pathology, Citogenomics Laboratory (LIM 03), Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.affiliation: Medical Genetics Unit, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Jose Francisco
authors.initials: JF
authors.lastname: Franco
authors.affiliation: Medical Genetics Unit, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D001402:B-Lymphocytes / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics* / Q000378:metabolism; D007136:Immunoglobulins / Q000097:blood; D007694:Killer Cells, Natural / Q000502:physiology*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics* / Q000276:immunology / Q000473:pathology*; D020125:Mutation, Missense; D055815:Young Adult
chemical_list: D007136:Immunoglobulins; D007066:Iduronate Sulfatase
keywords: Autoimmunity; B cells; Immunodeficiency; Mucopolysaccharidoses; NK cells