A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia.

Abstract excerpt

NFKB2 encodes the precursor p100 which undergoes processing to generate the mature NF-κB2 transcription factor subunit p52. Most of the known pathogenic NFKB2 variants render p100 un-processable and are typically linked to immunodeficiency disorders with antibody deficiency, susceptibility to infections and often autoimmunity. We describe a heterozygous germline NFKB2 missense variant (c.781C>T; R261W) associated...

Topics

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• Agammaglobulinemia
• NFKB1 gene
• Genetic Predisposition to Disease
• HEK293 Cells
• Mutation, Missense