[Diagnostics of immunodeficiencies]

Area of Science:

• Immunology
• Genetics
• Medical Diagnostics

Background:

• Primary immunodeficiencies (PID), or inborn errors of immunity (IEI), encompass a range of conditions.
• Knowledge in this field has grown significantly due to technological advancements.

Purpose of the Study:

• To review the current understanding of PID/IEI.
• To highlight the importance of accurate diagnosis and its impact on treatment and prognosis.

Main Methods:

• Review of recent advances in genetic and immunological methodologies.
• Integration of whole genome sequencing with functional immunological analyses.

Main Results:

• Improved diagnostic capabilities for PID/IEI.
• Identification of diverse clinical presentations including infections, autoimmunity, inflammation, and malignancy.
• Enhanced guidance for targeted therapies.

Conclusions:

• Precise diagnosis of PID/IEI is critical for effective management.
• Modern diagnostic approaches significantly improve patient prognoses.
• PID/IEI require a multidisciplinary approach involving genetics and immunology.