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Journal article : Letter

A novel, heterozygous three base-pair deletion in CARD11 results in B cell expansion with NF-κB and T cell anergy disease

Abstract:

Germline gain-of-function mutations in CARD11 lead to the primary immunodeficiency, B cell expansion with NF-κB, and T cell anergy (BENTA). Herein, we report the case of a girl, presenting at 2 years of age with lymphocytosis and splenomegaly in whom a novel, in-frame, three base pair deletion in CARD11 was identified resulting in the deletion of a single lysine residue (K215del) from the coiled-coil domain. In vitro functional assays demonstrated that this variant leads to a subtle increase ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1007/s10875-019-00729-x

Authors


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Role:
Author
ORCID:
0000-0001-5345-2156
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Institution:
University of Oxford
Division:
MSD
Department:
Paediatrics
Oxford college:
St Cross College
Role:
Author
ORCID:
0000-0001-7361-719X
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Publisher:
Springer nature Publisher's website
Journal:
https://link.springer.com/journal/10875
Volume:
40
Issue:
2020
Pages:
406-411
Publication date:
2020-01-02
Acceptance date:
2019-11-26
DOI:
EISSN:
1573-2592
ISSN:
0271-9142
Pmid:
31897776
Source identifiers:
1081693
Language:
English
Keywords:
Subtype:
Letter
Pubs id:
pubs:1081693
UUID:
uuid:366e4e95-034b-41aa-9054-52eae13114f5
Local pid:
pubs:1081693
Deposit date:
2020-01-13

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