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We have shown that mice infected with mouse hepatitis virus A59 develop autoantibodies (autoAb) to liver and kidney fumarylacetoacetate hydrolase (FAH). Because it has been proposed that the immune system is stimulated b...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED/APS-1) is a monogenic disorder of failed central tolerance caused by deleterious variants in the autoimmune regulator (AIRE) gene. Interferon-γ-driv...

BackgroundT cell–mediated hepatitis is an uncommon cause of acute pediatric liver injury. Most patients respond to steroids, but management of refractory disease remains challenging. We describe four patients with non-...

The clinical management of autoimmune liver diseases is frequently complicated by the concomitant presentation of hepatitic and cholestatic features, an entity clinically designated as Overlap Syndrome. While the majorit...

BackgroundItchy E3 ubiquitin ligase deficiency (ITCH deficiency) is a rare monogenic immune dysregulation syndrome characterized by early-onset multisystem autoimmunity and significant morbidity and mortality. Only one p...

Glycyrrhizin preparations (GLPS), derived from Glycyrrhiza uralensis (licorice), are widely used hepatoprotective agents in clinical practice. Their primary active components, 18α- and 18β-glycyrrhetinic acid (GA), are...

Patients with STAT1 gain-of-function (GOF) variants may present not only with chronic mucocutaneous candidiasis and other forms of immunodeficiency but also with a broad-spectrum of autoimmune manifestations, for which J...