Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

Science. 2022 Jun 17;376(6599):eabm6380. doi: 10.1126/science.abm6380. Epub 2022 Jun 17.

Abstract

The molecular basis of interindividual clinical variability upon infection with Staphylococcus aureus is unclear. We describe patients with haploinsufficiency for the linear deubiquitinase OTULIN, encoded by a gene on chromosome 5p. Patients suffer from episodes of life-threatening necrosis, typically triggered by S. aureus infection. The disorder is phenocopied in patients with the 5p- (Cri-du-Chat) chromosomal deletion syndrome. OTULIN haploinsufficiency causes an accumulation of linear ubiquitin in dermal fibroblasts, but tumor necrosis factor receptor-mediated nuclear factor κB signaling remains intact. Blood leukocyte subsets are unaffected. The OTULIN-dependent accumulation of caveolin-1 in dermal fibroblasts, but not leukocytes, facilitates the cytotoxic damage inflicted by the staphylococcal virulence factor α-toxin. Naturally elicited antibodies against α-toxin contribute to incomplete clinical penetrance. Human OTULIN haploinsufficiency underlies life-threatening staphylococcal disease by disrupting cell-intrinsic immunity to α-toxin in nonleukocytic cells.

MeSH terms

  • Bacterial Toxins* / immunology
  • Cri-du-Chat Syndrome* / genetics
  • Cri-du-Chat Syndrome* / immunology
  • Endopeptidases* / genetics
  • Haploinsufficiency* / genetics
  • Haploinsufficiency* / immunology
  • Hemolysin Proteins* / immunology
  • Host-Pathogen Interactions / genetics
  • Host-Pathogen Interactions / immunology
  • Humans
  • Immunity, Cellular / genetics
  • Necrosis
  • Staphylococcal Infections* / genetics
  • Staphylococcal Infections* / immunology
  • Staphylococcal Infections* / pathology
  • Staphylococcus aureus*

Substances

  • Bacterial Toxins
  • Hemolysin Proteins
  • staphylococcal alpha-toxin
  • Endopeptidases
  • OTULIN protein, human