Andrés Caballero-Oteyza, Laura Crisponi, Xiao P Peng, Hongying Wang, Pavla Mrovecova, Stefania Olla, Chiara Siguri, Farida Marnissi, Zineb Jouhadi, Ivona Aksentijevich, Bodo Grimbacher, Michele Proietti
OTULIN encodes an eponymous linear deubiquitinase (DUB), which through the regulation of M1-Ub dynamics, is essential for controlling inflammation as a negative regulator of the canonical NF-𝛋B signaling pathway. Biallelic loss-of-function (LOF) mutations in OTULIN cause an autosomal recessive condition named Otulin-Related Autoinflammatory Syndrome (ORAS), also known as Otulipenia or AutoInflammation, Panniculitis, and Dermatosis Syndrome (AIPDS). Monoallelic OTULIN LOF, also known as OTULIN Haploinsufficiency (OHI) or Immunodeficiency 107 (IMD107), has been linked to an incompletely penetrant, dominantly inherited susceptibility to invasive Staphylococcal infections...
March 8, 2024: Research Square