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231224s2017 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2016.12.013
|2 doi
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|a pubmed24n0897.xml
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|a (DE-627)NLM269109277
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|a (NLM)28216420
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|a (PII)S1521-6616(16)30375-8
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Schröder, Claudia
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy
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|c 2017
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 18.08.2017
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|a Date Revised 06.02.2018
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2017 Elsevier Inc. All rights reserved.
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|a Here we describe novel mutations in recombination activation gene 1 (RAG1) in a compound heterozygous male patient with combined T and B cell immunodeficiency (CID). Clinical manifestations besides antibody deficiency included airway infections, granulomatosis and autoimmune features. He died at the age of 37 due to PML caused by JC virus infection. By targeted next-generation sequencing we detected post mortem in this patient three mutations in RAG1. One allele harbored two novel mutations (c.1123C>G, p.H375D and c.1430delC, p.F478Sfs*14), namely a missense variant and a frameshift deletion, of which the latter leads to a truncated RAG1 protein. The other allele revealed a previously described missense mutation (c.1420C>T, p.R474C, rs199474678). Functional analysis of the p.R474C variant in an in vitro V(D)J recombination assay exhibited reduced recombination activity compared to a wild-type control. Our findings suggest that mutations in RAG1, specifically the p.R474C variant, can be associated with relatively mild clinical symptoms or delayed occurrence of T cell and B cell deficiencies but may predispose to PML
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|a Case Reports
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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|a Combined immunodeficiency (CID)
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|a Common variable immunodeficiency (CVID)
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| 650 |
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|a Progressive multifocal leukoencephalopathy (PML)
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| 650 |
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|a Recombination activation gene 1 (RAG1)
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| 650 |
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|a Homeodomain Proteins
|2 NLM
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| 650 |
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|a Immunoglobulins
|2 NLM
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| 650 |
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|a Receptors, Antigen, T-Cell
|2 NLM
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| 650 |
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|a RAG-1 protein
|2 NLM
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| 650 |
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|a 128559-51-3
|2 NLM
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| 700 |
1 |
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|a Baerlecken, Niklas Thomas
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Pannicke, Ulrich
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Dörk, Thilo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Witte, Torsten
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Jacobs, Roland
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Stoll, Matthias
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Schwarz, Klaus
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Grimbacher, Bodo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Schmidt, Reinhold E
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Atschekzei, Faranaz
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 179(2017) vom: 15. Juni, Seite 1-7
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
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|g volume:179
|g year:2017
|g day:15
|g month:06
|g pages:1-7
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|u http://dx.doi.org/10.1016/j.clim.2016.12.013
|3 Volltext
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