Monogenic autoinflammatory disorders: beyond the periodic fever

Area of Science:

• Immunology
• Genetics
• Rheumatology

Background:

• Monogenic autoinflammatory disorders (MAIDs) are a rapidly expanding group of genetic diseases.
• These conditions result from dysregulation of the innate immune system.
• The initial classification included four 'periodic fever syndromes,' but MAIDs are now recognized as more complex and heterogeneous.

Purpose of the Study:

• To provide an updated review of classic periodic fever syndromes.
• To introduce the expanding spectrum of clinical features in newly described MAIDs.
• To highlight advances in understanding these complex immune disorders.

Main Methods:

• Literature review of recent publications on monogenic autoinflammatory disorders.
• Synthesis of information on classic and newly identified periodic fever syndromes.
• Analysis of evolving clinical presentations and genetic underpinnings.

Main Results:

• Significant increase in described MAIDs over the past two decades.
• Improved genetic sequencing techniques have facilitated diagnosis.
• Recognition of a broader and more complex range of clinical manifestations.

Conclusions:

• MAIDs represent a diverse and evolving field of study.
• Continued research is crucial for understanding the complexities of innate immune dysregulation.
• Accurate diagnosis and management require awareness of the expanding clinical spectrum.