OTULIN-related autoinflammatory syndrome (ORAS)

Disease ID:1177
Name:OTULIN-related autoinflammatory syndrome (ORAS)
Associated with:1 target
Description
A potentially fatal inherited autoimmune disease. Premature newborns display severe idiopathic inflammatory symptoms, developing repeated episodes of systemic inflammation (diarrhea, elevated serum C-reactive protein) without evidence of infection. The affected babies develop painful swollen joints, elevated immunoglobulin levels and serum autoantibodies.

Targets

otulin
Role:  Faliure of otulin deubiquitinase activity results in spontaneous and uncontrolled immune system activation, leading to death if untreated.
Drugs:  The anti-TNFα antibody infliximab resolves ORAS symptoms, although it is not yet approved for this condition (August 2016). It is approved as a therapy for other autoimmune and inflammatory diseases, including rheumatoid arthritis and Crohn's disease.
References:  1-2
Mutations:  otulin is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for OTULIN-related autoinflammatory syndrome (ORAS)

References

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1. Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, McHale D, Maher ER, McKenzie ANJ, Komander D. (2016) The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity. Cell, 166 (5): 1215-1230.e20. [PMID:27523608]

2. MRC scientists. Major breakthrough identifies cause and treatment of fatal autoimmune disease. Accessed on 17/08/2016. Modified on 17/08/2016. MRC Laboratory of Molecular Biology, https://www2.mrc-lmb.cam.ac.uk/major-breakthrough-identifies-cause-treatment-fatal-autoimmune-disease/