Mariël Swart

Apr 12, 2024 | nature.com | Hirotsugu Oda |Kalpana Manthiram |Pallavi Pimpale Chavan |Shuichiro Nakabo |Mariël Swart |Nisa Celik | +22 more

AbstractThe linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL-1 and SHARPIN and is essential for proper immune responses. Individuals with HOIP and HOIL-1 deficiencies present with severe immunodeficiency, autoinflammation and glycogen storage disease. In mice, the loss of Sharpin leads to severe dermatitis due to excessive keratinocyte cell death.