A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage

A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage

In common variable immunodeficiency (CVID), heterozygous damaging NFKB1 variants represent the most frequent monogenic cause. NFKB1 encodes the precursor p105, which undergoes proteasomal processing to generate the mature NF-κB transcription factor subunit p50. The majority of NFKB1 sequence changes...

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Bibliographic Details
Main Authors: Manfred Fliegauf, Renate Krüger, Sophie Steiner, Leif Gunnar Hanitsch, Sarah Büchel, Volker Wahn, Horst von Bernuth, Bodo Grimbacher
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Immunology
Subjects:
NFKB1
nuclear factor kappa B subunit 1
NF-kappa B
NF-κB
CVID
Common Variable Immunodeficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.621503/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2021.621503/full

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