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

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

Copyright © 2015 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 161(2015), 2 vom: 05. Dez., Seite 355-65
1. Verfasser: Sanyal, Mrinmoy (VerfasserIn)
Weitere Verfasser: Morimoto, Marie, Baradaran-Heravi, Alireza, Choi, Kunho, Kambham, Neeraja, Jensen, Kent, Dutt, Suparna, Dionis-Petersen, Kira Y, Liu, Lan Xiang, Felix, Katie, Mayfield, Christy, Dekel, Benjamin, Bokenkamp, Arend, Fryssira, Helen, Guillen-Navarro, Encarna, Lama, Giuliana, Brugnara, Milena, Lücke, Thomas, Olney, Ann Haskins, Hunley, Tracy E, Polat, Ayse Ipek, Yis, Uluc, Bogdanovic, Radovan, Mitrovic, Katarina, Berry, Susan, Najera, Lydia, Najafian, Behzad, Gentile, Mattia, Nur Semerci, C, Tsimaratos, Michel, Lewis, David B, Boerkoel, Cornelius F
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2015
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't CD127 CpG IL7Rα Promoter DNA methylation SIOD T-cell immunodeficiency Interleukin-17 Receptors, Interleukin-7 mehr... interleukin-7 receptor, alpha chain SMARCAL1 protein, human EC 2.7.7.- DNA Helicases EC 3.6.4.-
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100 1 |a Sanyal, Mrinmoy  |e verfasserin  |4 aut 
245 1 0 |a Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD) 
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520 |a 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 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a CD127 
650 4 |a CpG 
650 4 |a IL7Rα 
650 4 |a Promoter DNA methylation 
650 4 |a SIOD 
650 4 |a T-cell immunodeficiency 
650 7 |a Interleukin-17  |2 NLM 
650 7 |a Receptors, Interleukin-7  |2 NLM 
650 7 |a interleukin-7 receptor, alpha chain  |2 NLM 
650 7 |a SMARCAL1 protein, human  |2 NLM 
650 7 |a EC 2.7.7.-  |2 NLM 
650 7 |a DNA Helicases  |2 NLM 
650 7 |a EC 3.6.4.-  |2 NLM 
700 1 |a Morimoto, Marie  |e verfasserin  |4 aut 
700 1 |a Baradaran-Heravi, Alireza  |e verfasserin  |4 aut 
700 1 |a Choi, Kunho  |e verfasserin  |4 aut 
700 1 |a Kambham, Neeraja  |e verfasserin  |4 aut 
700 1 |a Jensen, Kent  |e verfasserin  |4 aut 
700 1 |a Dutt, Suparna  |e verfasserin  |4 aut 
700 1 |a Dionis-Petersen, Kira Y  |e verfasserin  |4 aut 
700 1 |a Liu, Lan Xiang  |e verfasserin  |4 aut 
700 1 |a Felix, Katie  |e verfasserin  |4 aut 
700 1 |a Mayfield, Christy  |e verfasserin  |4 aut 
700 1 |a Dekel, Benjamin  |e verfasserin  |4 aut 
700 1 |a Bokenkamp, Arend  |e verfasserin  |4 aut 
700 1 |a Fryssira, Helen  |e verfasserin  |4 aut 
700 1 |a Guillen-Navarro, Encarna  |e verfasserin  |4 aut 
700 1 |a Lama, Giuliana  |e verfasserin  |4 aut 
700 1 |a Brugnara, Milena  |e verfasserin  |4 aut 
700 1 |a Lücke, Thomas  |e verfasserin  |4 aut 
700 1 |a Olney, Ann Haskins  |e verfasserin  |4 aut 
700 1 |a Hunley, Tracy E  |e verfasserin  |4 aut 
700 1 |a Polat, Ayse Ipek  |e verfasserin  |4 aut 
700 1 |a Yis, Uluc  |e verfasserin  |4 aut 
700 1 |a Bogdanovic, Radovan  |e verfasserin  |4 aut 
700 1 |a Mitrovic, Katarina  |e verfasserin  |4 aut 
700 1 |a Berry, Susan  |e verfasserin  |4 aut 
700 1 |a Najera, Lydia  |e verfasserin  |4 aut 
700 1 |a Najafian, Behzad  |e verfasserin  |4 aut 
700 1 |a Gentile, Mattia  |e verfasserin  |4 aut 
700 1 |a Nur Semerci, C  |e verfasserin  |4 aut 
700 1 |a Tsimaratos, Michel  |e verfasserin  |4 aut 
700 1 |a Lewis, David B  |e verfasserin  |4 aut 
700 1 |a Boerkoel, Cornelius F  |e verfasserin  |4 aut 
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773 1 8 |g volume:161  |g year:2015  |g number:2  |g day:05  |g month:12  |g pages:355-65 
856 4 0 |u http://dx.doi.org/10.1016/j.clim.2015.10.005  |3 Volltext 
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