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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Detalles Bibliográficos
Autores principales: Fliegauf, Manfred, Krüger, Renate, Steiner, Sophie, Hanitsch, Leif Gunnar, Büchel, Sarah, Wahn, Volker, von Bernuth, Horst, Grimbacher, Bodo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115018/
https://www.ncbi.nlm.nih.gov/pubmed/33995346
http://dx.doi.org/10.3389/fimmu.2021.621503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115018/
https://www.ncbi.nlm.nih.gov/pubmed/33995346
http://dx.doi.org/10.3389/fimmu.2021.621503

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