AIPDS syndrome is an autosomal recessive disorder caused by mutations of the OTULIN gene. The syndrome includes autoinflammatory periodic fever, panniculitis, and dermatosis.
1. |
Damgaard RB et al. (2016) The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity. |
2. |
Zhou Q et al. (2016) Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. |