2. Academic Validation
  3. Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach

Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach

  • J Allergy Clin Immunol. 2020 Nov;146(5):925-937. doi: 10.1016/j.jaci.2020.08.017.
Peter A Nigrovic 1,  Pui Y Lee 2,  Hal M Hoffman 3
Affiliations

Affiliations

  • 1 Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Boston, Mass; Division of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Department of Medicine, Harvard Medical School, Boston, Mass. Electronic address: pnigrovic@bwh.harvard.edu.
  • 2 Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Boston, Mass; Division of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Department of Medicine, Harvard Medical School, Boston, Mass.
  • 3 Division of Pediatric Allergy, Immunology, and Rheumatology, Rady Children's Hospital and University of California at San Diego, San Diego, Calif.
PMID: 33160483 DOI: 10.1016/j.jaci.2020.08.017
Abstract

Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily through antigen-independent hyperactivation of immune pathways. First recognized just over 2 decades ago, the autoinflammatory disease spectrum has expanded rapidly to include more than 40 distinct monogenic conditions. Related mechanisms contribute to common conditions such as gout and Cardiovascular Disease. Here, we review the basic concepts underlying the "autoinflammatory revolution" in the understanding of immune-mediated disease and introduce major categories of monogenic autoinflammatory disorders recognized to date, including inflammasomopathies and other IL-1-related conditions, interferonopathies, and disorders of nuclear factor kappa B and/or aberrant TNF activity. We highlight phenotypic presentation as a reflection of pathogenesis and outline a practical approach to the evaluation of patients with suspected autoinflammation.

Keywords

Autoinflammation; IFN; NF-κB; inflammasome; innate immunity.

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