Inborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants
in genes encoding for molecules that are relevant to the innate or adaptive immune …

The ubiquitin–proteasome system (UPS) has a critical role in post-translational protein
modification that is essential for the maintenance of all cellular functions, including immune …

Mutations in proteasome β-subunits or their chaperone and regulatory proteins are
associated with proteasome-associated autoinflammatory disorders (PRAAS). We studied …

Primary proteasomopathies have recently emerged as a new class of rare early-onset
neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1 …

The ubiquitin-proteasome system mediates the degradation of a wide variety of proteins.
Proteasome dysfunction is associated with neurodegenerative diseases and …

Autoinflammatory Diseases (AIDs) are a vast spectrum of disorders characterized by
recurrent attacks of sterile inflammation. Since the first cloning of the Familial Mediterranean …

More than 450 genetic defects result in inborn errors of immunity (IEI). Their individual
prevalence in specific cohorts is influenced by national characteristics and other factors. We …

Background The role of type I interferon (IFN-I) signaling in systemic lupus erythematosus
(SLE) has been well established. However, unanswered questions remain regarding the …

Objective To investigate the effect of embryonic inflammatory exposure on the response of
mouse offspring to interphotoreceptor retinoid-binding protein (IRBP)-induced experimental …

Neutrophilic dermatoses are autoinflammatory disorders characterised by sterile cutaneous
inflammatory neutrophilic infiltrates. This group of diseases is rare in infants and children …