[Hereditary systemic autoinflammatory diseases]

Area of Science:

• Immunology
• Genetics
• Rheumatology

Background:

• Systemic autoinflammatory diseases (SAIDs) are rare disorders characterized by recurrent inflammatory episodes.
• These conditions result from dysregulated innate immune responses.
• A Mendelian hereditary pattern is evident in many SAIDs, with recent elucidation of their genetic and molecular underpinnings.

Purpose of the Study:

• To provide an updated review of hereditary systemic autoinflammatory diseases.
• To summarize key clinical, physiopathological, and therapeutic features.
• To highlight the genetic basis of these rare inflammatory conditions.

Main Methods:

• Literature review of clinical, genetic, and molecular data.
• Synthesis of information on disease mechanisms.
• Compilation of current therapeutic strategies.

Main Results:

• Identification of specific genes and proteins involved in the innate immune response.
• Description of diverse clinical manifestations across different hereditary SAIDs.
• Overview of emerging and established treatment modalities.

Conclusions:

• Hereditary SAIDs are linked to specific genetic mutations affecting innate immunity.
• Understanding the genetic basis is crucial for accurate diagnosis and targeted therapy.
• Advances in molecular genetics continue to refine the classification and management of these diseases.