title: Altered expression of immune-related genes in children with Down syndrome.
abstract: Individuals with Down syndrome (DS) have a high incidence of immunological alterations with increased susceptibility to bacterial and viral infections and high frequency of different types of hematologic malignancies and autoimmune disorders. In the current study, we profiled the expression pattern of 92 immune-related genes in peripheral blood mononuclear cells (PBMCs) of two different groups, children with DS and control children, to identify differentially expressed genes that might be of pathogenetic importance for the development and phenotype of the immunological alterations observed in individuals with DS. PBMCs samples were obtained from six DS individuals with karyotypically confirmed full trisomy 21 and six healthy control individuals (ages 2-6 years). Gene expression was profiled in duplicate according to the manufacturer's instructions provided by commercially available TaqMan Human Immune Array representing 92 immune function genes and four reference genes on a 96-plex gene card. A set of 17 differentially expressed genes, not located on chromosome 21 (HSA21), involved in immune and inflammatory pathways was identified including 13 genes (BCL2, CCL3, CCR7, CD19, CD28, CD40, CD40LG, CD80, EDN1, IKBKB, IL6, NOS2 and SKI) significantly down-regulated and four genes (BCL2L1, CCR2, CCR5 and IL10) significantly up-regulated in children with DS. These findings highlight a list of candidate genes for further investigation into the molecular mechanism underlying DS pathology and reinforce the secondary effects of the presence of a third copy of HSA21.
authors.affiliation: Unidade de Pesquisa em Genética e Biologia Molecular, Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto, São Paulo, Brazil.
authors.forename: Bruna Lancia
authors.initials: BL
authors.lastname: Zampieri
authors.affiliation: Unidade de Pesquisa em Genética e Biologia Molecular, Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto, São Paulo, Brazil.
authors.forename: Joice Matos
authors.initials: JM
authors.lastname: Biselli-Périco
authors.affiliation: Department of Genetics and, Ribeirão Preto Medical School University of São Paulo, São Paulo, Brazil; Institute of Bioinformatics and Biotechnology (2bio), São Paulo, Brazil; National Institute of Science and Technology in Stem Cell and Cell Therapy and Center For Cell Based Therapy, Ribeirao Preto, São Paulo, Brazil.
authors.forename: Jorge Estefano Santana
authors.initials: JE
authors.lastname: de Souza
authors.affiliation: Department of Genetics and, Ribeirão Preto Medical School University of São Paulo, São Paulo, Brazil; Institute of Bioinformatics and Biotechnology (2bio), São Paulo, Brazil; National Institute of Science and Technology in Stem Cell and Cell Therapy and Center For Cell Based Therapy, Ribeirao Preto, São Paulo, Brazil.
authors.forename: Matheus Carvalho
authors.initials: MC
authors.lastname: Bürger
authors.affiliation: Department of Genetics and, Ribeirão Preto Medical School University of São Paulo, São Paulo, Brazil; National Institute of Science and Technology in Stem Cell and Cell Therapy and Center For Cell Based Therapy, Ribeirao Preto, São Paulo, Brazil.
authors.forename: Wilson Araújo
authors.initials: WA
authors.lastname: Silva Júnior
authors.affiliation: Unidade de Pesquisa em Genética e Biologia Molecular, Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto, São Paulo, Brazil.
authors.forename: Eny Maria
authors.initials: EM
authors.lastname: Goloni-Bertollo
authors.affiliation: Unidade de Pesquisa em Genética e Biologia Molecular, Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto, São Paulo, Brazil.
authors.forename: Erika Cristina
authors.initials: EC
authors.lastname: Pavarino
mesh_terms: D002648:Child; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics / Q000276:immunology*; D005260:Female; D006801:Humans; D008297:Male; D059467:Transcriptome