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231225s2019 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2019.03.010
|2 doi
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|a pubmed24n0985.xml
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|a (DE-627)NLM295753544
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|a (NLM)30953794
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|a (PII)S1521-6616(18)30590-4
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Tuijnenburg, Paul
|e verfasserin
|4 aut
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| 245 |
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|a Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency
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|c 2019
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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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| 500 |
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|a Date Completed 02.04.2020
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|a Date Revised 09.01.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.
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|a Genetic studies are identifying an increasing number of monogenic causes of Common Variable Immunodeficiency (CVID). Pathogenic variants in the C-terminus of NFKB2 have been identified in the subset of CVID patients whose immunodeficiency is associated with ectodermal dysplasia and central adrenal insufficiency. We describe 2 unrelated CVID pedigrees with 4 cases of pathogenic stop gain variants (c.1903C > T) in the ankyrin repeat domain (ARD) of NF-κB2, leading to a premature truncation of the protein at p.Arg635Term (R635X). By immunophenotyping and functional ex vivo B- and T-cell experiments we characterized the variant by reduced class-switched memory B-cell counts and immature plasmablasts, unable to produce IgG and IgA. Features of a poor proliferative T-cell response and reduced expansion of CD4+CXCR5+ T cells was only observed in the two clinically affected index cases without any clear clinical correlate. In conclusion, pathogenic stop variants in the ARD of NFKB2 can cause 'infection-only' CVID with an abnormal B-cell phenotype and a variable clinical penetrance
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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 B cells
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|a Common variable immunodeficiency
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|a NFKB2
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|a T cells
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| 650 |
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|a CXCR5 protein, human
|2 NLM
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| 650 |
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|a NF-kappa B p52 Subunit
|2 NLM
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| 650 |
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|a NFKB2 protein, human
|2 NLM
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| 650 |
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|a Receptors, CXCR5
|2 NLM
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| 700 |
1 |
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|a Lango Allen, Hana
|e verfasserin
|4 aut
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| 700 |
1 |
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|a de Bree, Godelieve J
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Savic, Sinisa
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Jansen, Machiel H
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Stockdale, Claire
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Simeoni, Ilenia
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ten Berge, Ineke J M
|e verfasserin
|4 aut
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| 700 |
1 |
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|a van Leeuwen, Ester M M
|e verfasserin
|4 aut
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| 700 |
0 |
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|a NIHR BioResource
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Thaventhiran, James E
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kuijpers, Taco W
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 203(2019) vom: 03. Juni, Seite 23-27
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:203
|g year:2019
|g day:03
|g month:06
|g pages:23-27
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2019.03.010
|3 Volltext
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