A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantl...
A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
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Author / Creator
Kuehn, Hye Sun , Bernasconi, Andrea , Niemela, Julie E. , Almejun, Maria Belen , Gallego, William Alexander Franco , Goel, Shubham , Stoddard, Jennifer L. , Sánchez, Ronald Guillermo Peláez , Franco, Carlos Andrés Arango , Oleastro, Matías , Grunebaum, Eyal , Ballas, Zuhair , Cunningham-Rundles, Charlotte , Fleisher, Thomas A. , Franco, José Luis , Danielian, Silvia and Rosenzweig, Sergio D.
Publisher
New York: Springer US
Journal title
Language
English
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Publication information
Publisher
New York: Springer US
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Scope and Contents
Contents
The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of
NFKB2
have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CVID) or combined immunodeficiency (CID) phenotypes. Her...
Alternative Titles
Full title
A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Authors, Artists and Contributors
Author / Creator
Bernasconi, Andrea
Niemela, Julie E.
Almejun, Maria Belen
Gallego, William Alexander Franco
Goel, Shubham
Stoddard, Jennifer L.
Sánchez, Ronald Guillermo Peláez
Franco, Carlos Andrés Arango
Oleastro, Matías
Grunebaum, Eyal
Ballas, Zuhair
Cunningham-Rundles, Charlotte
Fleisher, Thomas A.
Franco, José Luis
Danielian, Silvia
Rosenzweig, Sergio D.
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2563568133
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2563568133
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-020-00842-2