Abstract:
: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.
journal_name
Front Immunoljournal_title
Frontiers in immunologyauthors
Krüger R,Martin E,Dmytrus J,Feiterna-Sperling C,Meisel C,Unterwalder N,Kölsch U,Wahn V,Hofmann J,Korn P,Latour S,Boztug K,von Bernuth Hdoi
10.3389/fimmu.2020.01593subject
Has Abstractpub_date
2020-08-04 00:00:00pages
1593issn
1664-3224journal_volume
11pub_type
abstract::Large-scale study of the properties of T-cell receptor (TCR) and B-cell receptor (BCR) repertoires through next-generation sequencing is providing excellent insights into the understanding of adaptive immune responses. Variable(Diversity)Joining [V(D)J] germline genes and alleles must be characterized in detail to fac...
journal_title:Frontiers in immunology
pub_type: 杂志文章
doi:10.3389/fimmu.2016.00457
更新日期:2016-11-04 00:00:00
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journal_title:Frontiers in immunology
pub_type: 杂志文章
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pub_type: 杂志文章,评审
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journal_title:Frontiers in immunology
pub_type: 杂志文章
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journal_title:Frontiers in immunology
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pub_type: 杂志文章,评审
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journal_title:Frontiers in immunology
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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journal_title:Frontiers in immunology
pub_type: 杂志文章
doi:10.3389/fimmu.2014.00067
更新日期:2014-02-24 00:00:00
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journal_title:Frontiers in immunology
pub_type:
doi:10.3389/fimmu.2020.01936
更新日期:2020-08-07 00:00:00
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journal_title:Frontiers in immunology
pub_type: 杂志文章
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更新日期:2020-09-02 00:00:00
abstract::[This corrects the article DOI: 10.3389/fimmu.2017.00839.]. ...
journal_title:Frontiers in immunology
pub_type: 已发布勘误
doi:10.3389/fimmu.2019.03101
更新日期:2020-01-31 00:00:00
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journal_title:Frontiers in immunology
pub_type: 杂志文章,评审
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更新日期:2015-08-24 00:00:00
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journal_title:Frontiers in immunology
pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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journal_title:Frontiers in immunology
pub_type: 杂志文章,评审
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