Monogenic autoimmune and autoinflammatory disorders in adulthood: recent discoveries and implications for rheumatology practice.

Abstract excerpt

Advances in high-throughput sequencing and genotype-first approaches have revealed a growing number of monogenic autoimmune and autoinflammatory conditions that present in late adolescence or adulthood and sometimes mimic more common rheumatologic diseases. These disorders arise from both germline and somatic mutations and span a broad spectrum of immune dysregulation, including autoinflammation, autoimmunity,...

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