Article

Human LUBAC deficiency leads to autoinflammation and immunodeficiency by dysregulation in TNF-mediated cell death

2022-11-14

Abstract excerpt

<h4>ABSTRACT</h4> The linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL1 and SHARPIN, and is essential for proper immune responses. Patients with HOIP and HOIL1 deficiencies present with severe immunodeficiency, autoinflammation and glycogen storage. In mice, the loss of Sharpin leads to severe dermatitis due to excessive cell death in keratinocytes. Here we report the first patient with SHARPIN def...

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Literature Corpus work: 5b77695d-5bfe-566d-a777-1f8e7b65fb98
DOI: 10.1101/2022.11.09.22281431

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