Importance Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited
disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or …

The very first line of defense in humans is innate immunity, serving as a critical strongpoint in
the regulation of inflammation. Abnormalities of the innate immunity machinery make up a …

Objective Haemophagocytic lymphohistiocytosis (HLH) and macrophage activation
syndrome (MAS) are life-threatening systemic hyperinflammatory syndromes that can …

The understanding of immune dysregulation in many different diseases continues to grow.
There is increasing evidence that altered microbiome and gut barrier dysfunction contribute …

Inherited white matter disorders (IWMDs) are a phenotypically and genotypically
heterogeneous group of disorders affecting the central nervous system (CNS) with or without …

Children and adults with autoinflammatory disorders, who often experience recurrent fevers,
rashes, cold-induced symptoms, conjunctivitis, lymphadenopathy, recurrent infections …

Background Autoimmune diseases are leading causes of ill health and morbidity and have
diverse etiology. Two signaling pathways are key drivers of autoimmune pathology …

Objective Infection‐triggered encephalopathy syndromes (ITES) are potentially devastating
neuroinflammatory conditions. Although some ITES syndromes have recognisable MRI …

Objective The present manuscript aims to describe an international, electronic-based, user-
friendly and interoperable patient registry for monogenic autoinflammatory diseases …

Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1
(STING1) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI) …