Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiencyTriggered necrosis in OTULIN haploinsufficiency

Human OTULIN haploinsufficiency causes life-threatening staphylococcal disease, but the genotypic and phenotypic spectrum of the disorder remains largely unknown. We describe and characterize six unrelated patients with OTULIN haploinsufficiency, in whom severe necrosis followed infectious and/or tr...

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Principais autores:	Tristan J. van der Linden, Rob J.W. Arts, Catherine M. Biggs, Laleh Habibi, Laura Batlle-Masó, Arjan van Laarhoven, Lisette M. Scheepmaker, Pariya Yousefi, Andrea C. Gómez-Raccio, Zahra Alizadeh, Catharina M. Mulders-Manders, Jaap ten Oever, Janneke Schuurs-Hoeijmakers, Nasrin Alipour-Olyei, Anne Molitor, Daniela Di Giovanni, Raphael Carapito, Seiamak Bahram, Gisela Seminario, Liliana Bezrodnik, Mana Momenilandi, Mohammad Shahrooei, Jacinta Bustamante, Ivona Aksentijevich, Daniel L. Kastner, Mohammad Reza Fazlollahi, Roger Colobran, Stuart E. Turvey, Frank L. van de Veerdonk, Jean-Laurent Casanova, Bertrand Boisson, Bart W. Bardoel, András N. Spaan
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Rockefeller University Press 2025-09-01
סדרה:	Journal of Human Immunity
גישה מקוונת:	https://rupress.org/jhi/article-pdf/doi/10.70962/jhi.20250018/1950786/jhi_20250018.pdf
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