[Genetic diagnostics of autoinflammatory diseases]

Area of Science:

• Immunology
• Genetics
• Molecular Biology

Background:

• Autoinflammatory syndromes present with recurrent fevers and elevated inflammatory markers due to immune system dysregulation.
• Clinical diagnosis is challenging due to overlapping symptoms, variable expressivity, and pleiotropy.
• Early diagnosis significantly improves patient quality of life.

Purpose of the Study:

• To highlight the crucial role of molecular genetic methods in diagnosing autoinflammatory diseases.
• To discuss the impact of next-generation sequencing (NGS) on genetic diagnosis and gene discovery.
• To emphasize the need for standardized guidelines in molecular diagnostics and variant interpretation.

Main Methods:

• Review of molecular genetic diagnostic approaches for autoinflammatory diseases.
• Discussion of next-generation sequencing (NGS) technologies and their advancements.
• Analysis of challenges in variant interpretation and the need for consensus guidelines.

Main Results:

• NGS has substantially improved genetic diagnosis and identified new disease-associated genes.
• The increasing number of identified variants complicates clinical evaluation.
• A wide array of molecular genetic methods necessitates careful selection for optimal diagnostic utility.

Conclusions:

• Molecular genetic testing is essential for accurate and timely diagnosis of autoinflammatory syndromes.
• Standardized diagnostic guidelines are crucial for interpreting NGS-generated data and ensuring diagnostic specificity and sensitivity.
• Further development of consensus-driven guidelines will enhance the clinical management of autoinflammatory diseases.