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A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and...

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3206206093

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs

About this item

Full title

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs

Publisher

New York: Springer US

Journal title

Journal of clinical immunology, 2025-12, Vol.45 (1), p.48-48, Article 48

Language

English

Formats

Publication information

Publisher

New York: Springer US

More information

Scope and Contents

Contents

We studied a family with three male individuals across two generations affected by common variable immune deficiency (CVID). We identified a novel missense heterozygous variant (c.2602T>A:p.Y868N) of
NFKB2
in all patients and not in healthy relatives. Functional studies of the mutant allele in an overexpression system and of the patients’ cel...

Alternative Titles

Full title

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_3206206093

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3206206093

Other Identifiers

ISSN

0271-9142,1573-2592

E-ISSN

1573-2592

DOI

10.1007/s10875-024-01843-1

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