Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

Abstract Phosphoinositide-specific phospholipase Cs (PLCs) are expressed in all
mammalian cells and play critical roles in signal transduction. To obtain a comprehensive …

Missense mutations in PLCG2 can cause autoinflammation with phospholipase C gamma 2-
associated antibody deficiency and immune dysregulation (APLAID). Here, we generated a …

The central role of the resident innate immune cells of the brain (microglia) in
neurodegeneration has become clear over the past few years largely through genome-wide …

Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by
recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the …

Abstract Objective Monogenic Autoinflammatory diseases (AIDs) are a broad spectrum of
rare hereditary diseases whose ocular involvement has not been well characterized yet …

Background Pathogenic variants of phospholipase C gamma 2 (PLCG2) cause 2 related
forms of autosomal-dominant immune dysregulation (ID), PLCγ2-associated antibody …

Background: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-
associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and …

Autoinflammatory diseases (AIDs) are a group of hereditary diseases characterized by
systemic or organ-specific inflammation that is driven by gene variants [1]. These conditions …

Dysregulation and hyperactivation of innate immune responses can lead to the onset of
systemic autoinflammatory diseases. Monogenic autoinflammatory diseases are caused by …