Genetic Testing for Monogenic Systemic Autoinflammatory Disorders (SAIDs)

Focus of Report: This report reviews clinical study abstracts and clinical practice guidelines addressing genetic testing for monogenic systemic autoinflammatory disorders (SAIDs). Autoinflammatory disorders that result from polygenic or multifactorial causes are not included in this report.

At least 38 separate monogenic SAIDs have been classified as autoinflammatory, most of which are very rare. Details are listed in the Infevers Registry of Hereditary Auto-inflammatory Disorders Mutations database. Examples of specific disorders include:

  • Clinically defined hereditary periodic fever syndromes, for example:

    • Familial Mediterranean fever (FMF)

    • Tumor necrosis factor receptor–associated periodic syndrome (TRAPS)

  • Genetically defined SAIDs, for example:

    • Autoinflammatory syndrome, familial, Behçet-like (AISBL)

    • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS)

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