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Updated: Oct 12, 2025
Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
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Systemic Autoinflammatory Diseases: A Growing Family of Disorders of Overlapping Immune Dysfunction
Maria J Gutierrez1, Sivia K Lapidus2
1Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, 600 North Wolfe Street CMSC 1102, Baltimore, MD 21287, USA.
Abstract:
Systemic autoinflammatory diseases (SAIDs) are characterized by unprovoked exaggerated inflammation on a continuum from benign recurrent oral ulceration to life-threatening strokes or amyloidosis, with renal failure as a potential sequela. The ability to discriminate these diagnoses rests on the genetic and mechanistic defect of each disorder, considering potential overlapping autoinflammation, autoimmunity, and immune deficiency. A comprehensive and strategic genetic investigation influences management as well as the consequential expected prognoses in these subsets of rare diseases. The ever-expanding therapeutic armamentarium reflects international collaborations, which will hasten genetic discovery and consensus-driven treatment.
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