[Advancements in the Inborn Errors of Immunity]

Area of Science:

• Immunology
• Genetics
• Clinical Medicine

Background:

• The immune system protects against diseases but damage can lead to immune disorders.
• Genetic defects underlie primary immune system disorders, termed inborn errors of immunity (IEI).
• IEI encompasses 559 conditions, previously called primary immunodeficiencies (PID).

Purpose of the Study:

• To introduce the concept and scope of inborn errors of immunity (IEI).
• To highlight the genetic basis and diverse manifestations of IEI.
• To underscore the prevalence and clinical significance of IEI.

Main Methods:

• Review of immunological and genetic principles.
• Analysis of the classification and nomenclature of immune system disorders.
• Epidemiological data on the prevalence of congenital immune diseases.

Main Results:

• Inborn errors of immunity (IEI) represent a broad spectrum of genetic conditions.
• These disorders result from defects in immune system components, leading to varied clinical presentations.
• The prevalence of IEI is estimated at 1:1,200, indicating they are not rare.

Conclusions:

• The term IEI replaces PID, reflecting a deeper understanding of genetic immune disorders.
• IEI are caused by genetic defects and can manifest as immune deficiency or overactivity.
• IEI are a significant group of disorders with a notable prevalence in the general population.