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 Autoantibodies Against Type I IFNs
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Publisher
New York: Springer US
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Language
English
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Publisher
New York: Springer US
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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...
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Full title
A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs
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TN_cdi_proquest_miscellaneous_3206206093
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3206206093
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ISSN
0271-9142,1573-2592
E-ISSN
1573-2592
DOI
10.1007/s10875-024-01843-1