[Clinical overview of auto-inflammatory diseases]

Area of Science:

• Immunology
• Genetics
• Internal Medicine

Background:

• Monogenic auto-inflammatory diseases are genetic disorders affecting innate immunity proteins.
• They present with recurrent inflammatory episodes, distinct from autoimmune diseases due to the absence of autoantibodies.
• Key examples include familial Mediterranean fever and cryopyrinopathies, often mediated by interleukins.

Purpose of the Study:

• To provide a comprehensive overview of currently known monogenic auto-inflammatory diseases.
• To discuss the physiopathological classification based on interleukin and interferon pathways.
• To highlight recent discoveries driven by advancements in genetic analysis.

Main Methods:

• Literature review of monogenic auto-inflammatory diseases.
• Classification based on underlying molecular pathways (interleukin-1, interferon).
• Inclusion of polygenic inflammatory conditions like Still disease and Schnitzler syndrome.

Main Results:

• Auto-inflammatory diseases exhibit diverse clinical patterns, including recurrent fevers, chronic inflammation, and associated immunodeficiencies.
• A clear distinction is made between interleukin-1-mediated and interferon-mediated conditions.
• Polygenic inflammatory diseases such as Still disease, Schnitzler syndrome, and aseptic abscesses syndrome are also discussed.

Conclusions:

• Diagnosis relies on clinical presentation (anamnesis, inflammatory attacks) and increasingly sophisticated genetic testing.
• The field has expanded significantly due to genetic discoveries in the last decade.
• Understanding these diseases is crucial for accurate diagnosis and management.