[PDF][PDF] The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity

RB Damgaard, JA Walker, P Marco-Casanova… - Cell, 2016 - cell.com
RB Damgaard, JA Walker, P Marco-Casanova, NV Morgan, HL Titheradge, PR Elliott…
Cell, 2016cell.com
Summary Methionine-1 (M1)-linked ubiquitin chains regulate the activity of NF-κB, immune
homeostasis, and responses to infection. The importance of negative regulators of M1-linked
chains in vivo remains poorly understood. Here, we show that the M1-specific
deubiquitinase OTULIN is essential for preventing TNF-associated systemic inflammation in
humans and mice. A homozygous hypomorphic mutation in human OTULIN causes a
potentially fatal autoinflammatory condition termed OTULIN-related autoinflammatory …
Summary
Methionine-1 (M1)-linked ubiquitin chains regulate the activity of NF-κB, immune homeostasis, and responses to infection. The importance of negative regulators of M1-linked chains in vivo remains poorly understood. Here, we show that the M1-specific deubiquitinase OTULIN is essential for preventing TNF-associated systemic inflammation in humans and mice. A homozygous hypomorphic mutation in human OTULIN causes a potentially fatal autoinflammatory condition termed OTULIN-related autoinflammatory syndrome (ORAS). Four independent OTULIN mouse models reveal that OTULIN deficiency in immune cells results in cell-type-specific effects, ranging from over-production of inflammatory cytokines and autoimmunity due to accumulation of M1-linked polyubiquitin and spontaneous NF-κB activation in myeloid cells to downregulation of M1-polyubiquitin signaling by degradation of LUBAC in B and T cells. Remarkably, treatment with anti-TNF neutralizing antibodies ameliorates inflammation in ORAS patients and rescues mouse phenotypes. Hence, OTULIN is critical for restraining life-threatening spontaneous inflammation and maintaining immune homeostasis.
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