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Published in: Journal of Clinical Immunology 8/2014

01-11-2014 | Astute Clinician Report

Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation

Authors: Andrew W. Lindsley, Yaping Qian, C. Alexander Valencia, Kara Shah, Kejian Zhang, Amal Assa’ad

Published in: Journal of Clinical Immunology | Issue 8/2014

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Abstract

NFKB2 encodes the p100/p52 protein, a critical mediator of the canonical and noncanonical NFkB signaling pathways. Here we report the comprehensive immune evaluation of a child with a novel NFKB2 mutation and provide evidence that aberrant NFKB2 signaling not only causes humoral immune deficiency, but also interferes with the TCR-mediated proliferation of T cells. These observations expand the known phenotype associated with NFKB2 mutations.
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Metadata
Title
Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation
Authors
Andrew W. Lindsley
Yaping Qian
C. Alexander Valencia
Kara Shah
Kejian Zhang
Amal Assa’ad
Publication date
01-11-2014
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 8/2014
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-014-0095-3

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