{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:25:30Z","timestamp":1780471530336,"version":"3.54.1"},"reference-count":128,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6599","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2022,6,17]]},"abstract":"<jats:p>\n            The molecular basis of interindividual clinical variability upon infection with\n            <jats:italic>Staphylococcus aureus<\/jats:italic>\n            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\n            <jats:italic>S. aureus<\/jats:italic>\n            infection. The disorder is phenocopied in patients with the 5p\u2212 (Cri-du-Chat) chromosomal deletion syndrome. OTULIN haploinsufficiency causes an accumulation of linear ubiquitin in dermal fibroblasts, but tumor necrosis factor receptor\u2013mediated nuclear factor \u03baB 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 \u03b1-toxin. Naturally elicited antibodies against \u03b1-toxin contribute to incomplete clinical penetrance. Human OTULIN haploinsufficiency underlies life-threatening staphylococcal disease by disrupting cell-intrinsic immunity to \u03b1-toxin in nonleukocytic cells.\n          <\/jats:p>","DOI":"10.1126\/science.abm6380","type":"journal-article","created":{"date-parts":[[2022,5,19]],"date-time":"2022-05-19T17:59:39Z","timestamp":1652983179000},"source":"Crossref","is-referenced-by-count":67,"title":["Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal \u03b1-toxin"],"prefix":"10.1126","volume":"376","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5981-7259","authenticated-orcid":true,"given":"Andr\u00e1s N.","family":"Spaan","sequence":"first","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA."},{"name":"Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8573-6820","authenticated-orcid":true,"given":"Anna-Lena","family":"Neehus","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France."},{"name":"Imagine Institute, Paris Cit\u00e9 University, 75015 Paris, France."},{"name":"Institute of Experimental Hematology, REBIRTH Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5916-4654","authenticated-orcid":true,"given":"Emmanuel","family":"Laplantine","sequence":"additional","affiliation":[{"name":"Centre d\u2019Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France."},{"name":"Institut de Recherche St. Louis, H\u00f4pital St. Louis, INSERM U944, CNRS U7212, Paris Cit\u00e9 University, 75010 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5657-9814","authenticated-orcid":true,"given":"Frederik","family":"Staels","sequence":"additional","affiliation":[{"name":"Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2421-7389","authenticated-orcid":true,"given":"Masato","family":"Ogishi","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoann","family":"Seeleuthner","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious 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USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9584-3198","authenticated-orcid":true,"given":"Erika","family":"Van Nieuwenhove","sequence":"additional","affiliation":[{"name":"Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium."},{"name":"Department of Pediatric Rheumatology and Immunology, Wilhelmina Children\u2019s Hospital, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Chrabieh","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France."},{"name":"Imagine Institute, Paris Cit\u00e9 University, 75015 Paris, 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