A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors

Sci Adv. 2024 Aug 23;10(34):eadl3975. doi: 10.1126/sciadv.adl3975. Epub 2024 Aug 21.

Abstract

Genetic TNFAIP3 (A20) inactivation is a classical somatic lymphoma lesion and the genomic trait in haploinsufficiency of A20 (HA20). In a cohort of 34 patients with HA20, we show that heterozygous TNFAIP3 loss skews immune repertoires toward lymphocytes with classical self-reactive antigen receptors typically found in B and T cell lymphomas. This skewing was mediated by a feed-forward tumor necrosis factor (TNF)/A20/nuclear factor κB (NF-κB) loop that shaped pre-lymphoma transcriptome signatures in clonally expanded B (CD81, BACH2, and NEAT1) or T (GATA3, TOX, and PDCD1) cells. The skewing was reversed by anti-TNF treatment but could also progress to overt lymphoma. Analysis of conditional TNFAIP3 knock-out mice reproduced the wiring of the TNF/A20/NF-κB signaling axis with permissive antigen receptors and suggested a distinct regulation in B and T cells. Together, patients with the genetic disorder HA20 provide an exceptional window into A20/TNF/NF-κB-mediated control of immune homeostasis and early steps of lymphomagenesis that remain clinically unrecognized.

MeSH terms

  • Adult
  • Animals
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism
  • Female
  • Haploinsufficiency*
  • Homeostasis*
  • Humans
  • Lymphocytes / immunology
  • Lymphocytes / metabolism
  • Lymphoma / genetics
  • Lymphoma / immunology
  • Lymphoma / pathology
  • Male
  • Mice
  • Mice, Knockout
  • Middle Aged
  • NF-kappa B* / metabolism
  • Signal Transduction
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Tumor Necrosis Factor alpha-Induced Protein 3* / genetics
  • Tumor Necrosis Factor alpha-Induced Protein 3* / metabolism
  • Tumor Necrosis Factor-alpha / metabolism

Substances

  • Tumor Necrosis Factor alpha-Induced Protein 3
  • TNFAIP3 protein, human
  • NF-kappa B
  • Tumor Necrosis Factor-alpha
  • Tnfaip3 protein, mouse