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Brief Definitive Report

Germline deletion of CIN85 in humans with X chromosome–linked antibody deficiency

View ORCID ProfileBaerbel Keller, View ORCID ProfileMoneef Shoukier, Kathrin Schulz, Arshiya Bhatt, Ines Heine, Valentina Strohmeier, Carsten Speckmann, View ORCID ProfileNiklas Engels, Klaus Warnatz, View ORCID ProfileJürgen Wienands  Correspondence email
Baerbel Keller
Center for Chronic Immunodeficiency, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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  • ORCID record for Baerbel Keller
Moneef Shoukier
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany
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  • ORCID record for Moneef Shoukier
Kathrin Schulz
Institute of Cellular & Molecular Immunology, University Medical Center Göttingen, Göttingen, Germany
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Arshiya Bhatt
Institute of Cellular & Molecular Immunology, University Medical Center Göttingen, Göttingen, Germany
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Ines Heine
Institute of Cellular & Molecular Immunology, University Medical Center Göttingen, Göttingen, Germany
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Valentina Strohmeier
Center for Chronic Immunodeficiency, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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Carsten Speckmann
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany
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Niklas Engels
Institute of Cellular & Molecular Immunology, University Medical Center Göttingen, Göttingen, Germany
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  • ORCID record for Niklas Engels
Klaus Warnatz
Center for Chronic Immunodeficiency, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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Jürgen Wienands
Institute of Cellular & Molecular Immunology, University Medical Center Göttingen, Göttingen, Germany
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  • ORCID record for Jürgen Wienands
  • For correspondence: jwienan@uni-goettingen.de
DOI: 10.1084/jem.20170534 | Published April 10, 2018
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Abstract

Ubiquitously expressed Cbl-interacting protein of 85 kD (CIN85) is a multifunctional adapter molecule supposed to regulate numerous cellular processes that are critical for housekeeping as well as cell type–specific functions. However, limited information exists about the in vivo roles of CIN85, because only conditional mouse mutants with cell type–specific ablation of distinct CIN85 isoforms in brain and B lymphocytes have been generated so far. No information is available about the roles of CIN85 in humans. Here, we report on primary antibody deficiency in patients harboring a germline deletion within the CIN85 gene on the X chromosome. In the absence of CIN85, all immune cell compartments developed normally, but B lymphocytes showed intrinsic defects in distinct effector pathways of the B cell antigen receptor, most notably NF-κB activation and up-regulation of CD86 expression on the cell surface. These results reveal nonredundant functions of CIN85 for humoral immune responses.

  • Submitted: 23 March 2017
  • Revision received 20 July 2017
  • Accepted: 15 March 2018
Creative Commons logoCreative Commons logohttp://www.rupress.org/terms/https://creativecommons.org/licenses/by-nc-sa/4.0/

This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at https://creativecommons.org/licenses/by-nc-sa/4.0/).

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© 2018 Keller et al. http://www.rupress.org/terms/https://creativecommons.org/licenses/by-nc-sa/4.0/This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at https://creativecommons.org/licenses/by-nc-sa/4.0/).

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Germline deletion of CIN85 in humans with X chromosome–linked antibody deficiency
Baerbel Keller, Moneef Shoukier, Kathrin Schulz, Arshiya Bhatt, Ines Heine, Valentina Strohmeier, Carsten Speckmann, Niklas Engels, Klaus Warnatz, Jürgen Wienands
Journal of Experimental Medicine Apr 2018, jem.20170534; DOI: 10.1084/jem.20170534

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The Journal of Experimental Medicine: 215 (4)

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April 2, 2018
Volume 215, No. 4

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