Article
Type-Specific Impacts of Protein Defects in Pathogenic NFKB2 Variants: Novel Clinical Findings From 138 Patients.
The journal of allergy and clinical immunology. In practice - 1 Jan 2025
Meissner Jan, Fliegauf Manfred, Grimbacher Bodo, Klemann Christian
Abstract excerpt
BACKGROUND: The noncanonical NF-κB2 (nuclear factor kappa B subunit 2) pathway is integral in regulating immunologic responses, supervising immune function, development, and homeostasis. NFKB2 encodes the cytoplasmic precursor p100, which undergoes processing of its inhibitory C-terminal half to generate p52. Impeding C-terminal defects are well established to cause primary immunodeficiency disorder. In contrast,...
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