Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome

Area of Science:

• Immunology
• Genetics
• Rheumatology

Background:

• Systemic autoinflammatory diseases (SAID) are characterized by innate immune system dysregulation leading to severe inflammation.
• Hereditary fever syndromes were the first SAID with established genetic links (1999-2001).
• Currently, 37 monogenic disorders are classified as SAID by the International Union of Immunological Societies.

Purpose of the Study:

• To review systemic autoinflammatory diseases, including both monogenic and acquired conditions.
• To highlight recent studies contributing to phenotypic characterization of SAID.
• To discuss the impact of recent research on the clinical management of SAID.

Main Methods:

• Literature review of recent studies on systemic autoinflammatory diseases.
• Focus on conditions defined by the latest consensus processes.
• Inclusion of both genetically defined and acquired autoinflammatory syndromes.

Main Results:

• Identification of 37 distinct monogenic autoinflammatory disorders.
• Description of Schnitzler's syndrome as a well-defined acquired autoinflammatory condition.
• Summary of recent advancements in understanding SAID phenotypes and management.

Conclusions:

• SAID encompass a growing list of genetically determined and acquired inflammatory disorders.
• Ongoing research is crucial for refining the diagnosis and treatment of these complex conditions.
• Further characterization and management strategies for SAID are continuously evolving.