De novo NFKBIA variants within the N-terminal hotspot: consistent immunophenotype and divergent clinical presentations - Takeaways - MDSpire

De novo NFKBIA variants within the N-terminal hotspot: consistent immunophenotype and divergent clinical presentations

  • By

  • Rui Gan

  • Guangzhao Li

  • Lina Zhou

  • Li Wang

  • Rongxin Dai

  • Xuemei Tang

  • Junfeng Wu

  • Yanjun Jia

  • Qing Zhou

  • Xiaodong Zhao

  • Yunfei An

  • June 5, 2026

  • 0 min

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  • 1

    Germline monoallelic gain-of-function variants in NFKBIA cause a rare immunodeficiency syndrome with variable clinical outcomes.

  • 2

    Four unrelated patients with novel NFKBIA variants exhibited a consistent immune phenotype despite significant clinical heterogeneity.

  • 3

    Patients showed expanded naïve T-cell and B-cell compartments with reduced memory and effector subsets.

  • 4

    Clinical severity in patients ranged from recurrent infections in adolescence to severe multisystem disease in infancy.

  • 5

    All four mutant proteins suppressed TNF-α-induced NF-κB reporter activity more strongly than wild-type IκBα.

Original Source(s)

De novo NFKBIA variants within the N-terminal hotspot: consistent immunophenotype and divergent clinical presentations

  • by Rui Gan, Guangzhao Li, Lina Zhou, Li Wang, Rongxin Dai, Xuemei Tang, Junfeng Wu, Yanjun Jia, Qing Zhou, Xiaodong Zhao, Yunfei An

  • June 5, 2026

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