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Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)

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dc.contributor.author Sanyal, M.
dc.contributor.author Morimoto, M.
dc.contributor.author Baradaran-Heravi, A.
dc.contributor.author Choi, K.
dc.contributor.author Kambham, N.
dc.contributor.author Jensen, K.
dc.contributor.author Dutt, S.
dc.contributor.author Dionis-Petersen, K.Y.
dc.contributor.author Liu, L.X.
dc.contributor.author Felix, K.
dc.contributor.author Mayfield, C.
dc.contributor.author Dekel, B.
dc.contributor.author Bokenkamp, A.
dc.contributor.author Fryssira, H.
dc.contributor.author Guillen-Navarro, E.
dc.contributor.author Lama, G.
dc.contributor.author Brugnara, M.
dc.contributor.author Lücke, T.
dc.contributor.author Olney, A.H.
dc.contributor.author Hunley, T.E.
dc.contributor.author Polat, A.I.
dc.contributor.author Yis, U.
dc.contributor.author Bogdanovic, R.
dc.contributor.author Mitrovic, K.
dc.contributor.author Berry, S.
dc.contributor.author Najera, L.
dc.contributor.author Najafian, B.
dc.contributor.author Gentile, M.
dc.contributor.author Nur Semerci, C.
dc.contributor.author Tsimaratos, M.
dc.contributor.author Lewis, D.B.
dc.contributor.author Boerkoel, C.F.
dc.date.accessioned 2019-08-16T13:08:49Z
dc.date.available 2019-08-16T13:08:49Z
dc.date.issued 2015
dc.identifier.issn 15216616 (ISSN)
dc.identifier.uri http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/9987
dc.description.abstract Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of the T-cell immunodeficiency is unclear. Here, we demonstrate that the T cells of SIOD patients have undetectable levels of protein and mRNA for the IL-7 receptor alpha chain (IL7Rα) and are unresponsive to stimulation with IL-7, indicating a loss of functional receptor. No pathogenic mutations were detected in the exons of IL7R in these patients; however, CpG sites in the IL7R promoter were hypermethylated in SIOD T cells. We propose therefore that the lack of IL7Rα expression, associated with hypermethylation of the IL7R promoter, in T cells and possibly their earlier progenitors, restricts T-cell development in SIOD patients. © 2015 Elsevier Inc.
dc.language.iso English
dc.publisher Academic Press Inc.
dc.relation.isversionof 10.1016/j.clim.2015.10.005
dc.subject CD127
dc.subject CpG
dc.subject IL7Rα
dc.subject Promoter DNA methylation
dc.subject SIOD
dc.subject T-cell immunodeficiency
dc.subject interleukin 7
dc.subject interleukin 7 receptor alpha
dc.subject messenger RNA
dc.subject DNA helicase
dc.subject interleukin 17
dc.subject interleukin 7 receptor
dc.subject interleukin-7 receptor, alpha chain
dc.subject SMARCAL1 protein, human
dc.subject adolescent
dc.subject adult
dc.subject Article
dc.subject autosomal recessive disorder
dc.subject child
dc.subject clinical article
dc.subject controlled study
dc.subject DNA methylation
dc.subject exon
dc.subject gene mutation
dc.subject human
dc.subject human cell
dc.subject human tissue
dc.subject immune deficiency
dc.subject preschool child
dc.subject priority journal
dc.subject promoter region
dc.subject protein expression
dc.subject schimke immuno osseous dysplasia
dc.subject school child
dc.subject T lymphocyte
dc.subject young adult
dc.subject arteriosclerosis
dc.subject cell culture
dc.subject chondrodysplasia
dc.subject DNA sequence
dc.subject drug effects
dc.subject flow cytometry
dc.subject gene expression
dc.subject genetics
dc.subject immunohistochemistry
dc.subject lung embolism
dc.subject metabolism
dc.subject mononuclear cell
dc.subject mutation
dc.subject nephrotic syndrome
dc.subject pathology
dc.subject reverse transcription polymerase chain reaction
dc.subject Adolescent
dc.subject Adult
dc.subject Arteriosclerosis
dc.subject Cells, Cultured
dc.subject Child
dc.subject Child, Preschool
dc.subject DNA Helicases
dc.subject DNA Methylation
dc.subject Flow Cytometry
dc.subject Gene Expression
dc.subject Humans
dc.subject Immunohistochemistry
dc.subject Immunologic Deficiency Syndromes
dc.subject Interleukin-17
dc.subject Leukocytes, Mononuclear
dc.subject Mutation
dc.subject Nephrotic Syndrome
dc.subject Osteochondrodysplasias
dc.subject Promoter Regions, Genetic
dc.subject Pulmonary Embolism
dc.subject Receptors, Interleukin-7
dc.subject Reverse Transcriptase Polymerase Chain Reaction
dc.subject Sequence Analysis, DNA
dc.subject T-Lymphocytes
dc.subject Young Adult
dc.title Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)
dc.type Article
dc.relation.journal Clinical Immunology
dc.identifier.volume 161
dc.identifier.issue 2
dc.identifier.startpage 355
dc.identifier.endpage 365
dc.identifier.index Scopus


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