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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 Predominantl...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2563568133

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

About this item

Full title

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

Publisher

New York: Springer US

Journal title

Journal of clinical immunology, 2020-11, Vol.40 (8), p.1093-1101

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

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

Identifiers

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

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