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IntroductionMacrophage activation syndrome (MAS) is a rare, potentially fatal hyperinflammatory complication of autoimmune disease, characterized by fever, cytopenias, hyperferritinemia, and multiorgan involvement (1). I...

Interferonopathies are rare autoinflammatory disorders driven by a constitutive upregulation of the type I interferon (IFN-I) pathway, leading to chronic activation of this cytokine. Despite advances, direct IFN-I measur...

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...

BackgroundSevere leukocyte adhesion deficiency-I (LAD-I) results from biallelic deleterious ITGB2 variants leading to deficient/defective CD18 leukocyte expression and impaired endothelial adhesion and extravasation.Chil...

Hypereosinophilic syndrome (HES) is characterized by blood or tissue hypereosinophilia leading to organ damage or dysfunction. HES is most commonly secondary or idiopathic, but may be primary (myeloid) or familial. Here,...

BackgroundBehçet’s disease is a multisystem inflammatory disorder whose diagnosis can be challenging due to overlapping features with other inflammatory conditions and primary immunodeficiencies (1). In patients with ...

BackgroundDown syndrome (DS) is associated with chronic hyperactivation of interferon signaling and downstream Janus kinase (JAK) and STAT pathways, contributing to increased susceptibility to autoimmunity, autoinflammat...