A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage
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DOI: 10.3389/fimmu.2021.621503
Abstract: 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… read more here.
Keywords: protein; p50; tyr350cys; missense variant ... See more keywords