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CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman
Most of the few patients with homozygous CD70 deficiency described to date suffered from EBV-related malignancies in early childhood. We present a woman with CD70 deficiency diagnosed in adulthood. She presented in childhood with recurrent airway infections due to encapsulated bacteria, herpes zoste...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7417345/ https://www.ncbi.nlm.nih.gov/pubmed/32849540 http://dx.doi.org/10.3389/fimmu.2020.01593 |
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author | Krüger, Renate Martin, Emmanuel Dmytrus, Jasmin Feiterna-Sperling, Cornelia Meisel, Christian Unterwalder, Nadine Kölsch, Uwe Wahn, Volker Hofmann, Jörg Korn, Paula Latour, Sylvain Boztug, Kaan von Bernuth, Horst |
author_facet | Krüger, Renate Martin, Emmanuel Dmytrus, Jasmin Feiterna-Sperling, Cornelia Meisel, Christian Unterwalder, Nadine Kölsch, Uwe Wahn, Volker Hofmann, Jörg Korn, Paula Latour, Sylvain Boztug, Kaan von Bernuth, Horst |
author_sort | Krüger, Renate |
collection | PubMed |
description | Most of the few patients with homozygous CD70 deficiency described to date suffered from EBV-related malignancies in early childhood. We present a woman with CD70 deficiency diagnosed in adulthood. She presented in childhood with recurrent airway infections due to encapsulated bacteria, herpes zoster and a fulminant EBV infection followed by chronic EBV infection with mild lymphoproliferation and severe gingivitis/periodontal disease with high EBV viral load in saliva and gingival plaques as an adult. Up to the age of 24 years she developed no malignancy despite constant EBV viremia since primary EBV infection 15 years previously. Immunologic evaluation in childhood showed hypogammaglobulinemia with impaired polysaccharide responsiveness. She has been stable on immunoglobulin substitution with no further severe viral infections and no bacterial airway infections in adulthood. Targeted panel sequencing at the age of 20 years revealed a homozygous CD70 missense mutation (ENST00000245903.3:c.2T>C). CD70 deficiency was confirmed by absent CD70 expression of B cells and activated T cell blasts. The patient finished high school, persues an academic career and has rarely sick days at college. The clinical course of our patient may help to counsel parents of CD70-deficient patients with regard to prognosis and therapeutic options including haematopoetic stem cell transplantation. |
format | Online Article Text |
id | pubmed-7417345 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-74173452020-08-25 CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman Krüger, Renate Martin, Emmanuel Dmytrus, Jasmin Feiterna-Sperling, Cornelia Meisel, Christian Unterwalder, Nadine Kölsch, Uwe Wahn, Volker Hofmann, Jörg Korn, Paula Latour, Sylvain Boztug, Kaan von Bernuth, Horst Front Immunol Immunology Most of the few patients with homozygous CD70 deficiency described to date suffered from EBV-related malignancies in early childhood. We present a woman with CD70 deficiency diagnosed in adulthood. She presented in childhood with recurrent airway infections due to encapsulated bacteria, herpes zoster and a fulminant EBV infection followed by chronic EBV infection with mild lymphoproliferation and severe gingivitis/periodontal disease with high EBV viral load in saliva and gingival plaques as an adult. Up to the age of 24 years she developed no malignancy despite constant EBV viremia since primary EBV infection 15 years previously. Immunologic evaluation in childhood showed hypogammaglobulinemia with impaired polysaccharide responsiveness. She has been stable on immunoglobulin substitution with no further severe viral infections and no bacterial airway infections in adulthood. Targeted panel sequencing at the age of 20 years revealed a homozygous CD70 missense mutation (ENST00000245903.3:c.2T>C). CD70 deficiency was confirmed by absent CD70 expression of B cells and activated T cell blasts. The patient finished high school, persues an academic career and has rarely sick days at college. The clinical course of our patient may help to counsel parents of CD70-deficient patients with regard to prognosis and therapeutic options including haematopoetic stem cell transplantation. Frontiers Media S.A. 2020-08-04 /pmc/articles/PMC7417345/ /pubmed/32849540 http://dx.doi.org/10.3389/fimmu.2020.01593 Text en Copyright © 2020 Krüger, Martin, Dmytrus, Feiterna-Sperling, Meisel, Unterwalder, Kölsch, Wahn, Hofmann, Korn, Latour, Boztug and von Bernuth. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Immunology Krüger, Renate Martin, Emmanuel Dmytrus, Jasmin Feiterna-Sperling, Cornelia Meisel, Christian Unterwalder, Nadine Kölsch, Uwe Wahn, Volker Hofmann, Jörg Korn, Paula Latour, Sylvain Boztug, Kaan von Bernuth, Horst CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman |
title | CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman |
title_full | CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman |
title_fullStr | CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman |
title_full_unstemmed | CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman |
title_short | CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman |
title_sort | cd70 deficiency associated with chronic epstein-barr virus infection, recurrent airway infections and severe gingivitis in a 24-year-old woman |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7417345/ https://www.ncbi.nlm.nih.gov/pubmed/32849540 http://dx.doi.org/10.3389/fimmu.2020.01593 |
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