Autoinflammation, panniculitis, and dermatosis syndrome

Definition:

Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an auto-inflammatory disease caused by loss-of-function mutations in OTULIN, encoding a deubiquitinase. Patients present with neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency.

References:

[1]. Qing Zhou, et al. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. [Content Brief]

[2]. Rune Busk Damgaard, et al. The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity. Cell. 2016 Aug 25;166(5):1215-1230.e20. [Content Brief]

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