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

19 May 2022

Abstract excerpt

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...

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PMID: 35587511
DOI: 10.1126/science.abm6380

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Related research

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Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxinPMID 35587511Read ↗

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Dominant negative OTULIN Related Autoinflammatory SyndromeSemantic proximity Read ↗

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