OTULIN-related conditions: Report of a new case and review of the literature using GenIA
Andrés Caballero-Oteyza, Laura Crisponi, Xiao Peng, Hongying Wang, Pavla Mrovecova, Stefania Olla, Chiara Siguri, F. Marnissi, Z. Jouhadi, Ivona Aksentijevich, Bodo Grimbacher, Michele Proietti
Topics & Concepts
HaploinsufficiencyMissense mutationPhenotypeBiologyGeneticsMutationLoss functionDiseasePrimary immunodeficiencyComputational biologyMedicineGeneImmune systemPathologyNF-κB Signaling PathwaysUbiquitin and proteasome pathwaysInflammasome and immune disorders