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...
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: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2021.621503/full |
Similar Items
-
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50
by: Manfred Fliegauf, et al.
Published: (2022-08-01) -
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1
by: Claudia Schröder, et al.
Published: (2019-11-01) -
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
by: Christian Klemann, et al.
Published: (2019-03-01) -
Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency
by: Zoya Eskandarian, et al.
Published: (2019-06-01) -
Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea
by: Cornelia M. van Schewick, et al.
Published: (2020-07-01)