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New primary immunodeficiency diseases: context and future.

Joyce E Yu1, Jordan S Orange2, Yesim Yilmaz Demirdag1

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Newly identified genetic disorders, known as primary immunodeficiencies (PIDs), are increasingly recognized. Advances in genetic testing and screening are improving diagnosis and paving the way for precision medicine in treating these immune system disorders.

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Area of Science:

  • Immunology
  • Genetics
  • Medical Science

Background:

  • Primary immunodeficiency diseases (PIDs) are genetic disorders impacting host defense and increasing infection susceptibility.
  • PIDs encompass genetic variations causing immune system dysregulation.
  • The term 'inborn errors of immunity' is proposed to include PIDs and immune dysregulation disorders.

Purpose of the Study:

  • Highlight newly defined PIDs from the 2017 International Union of Immunologic Societies (IUIS) report.
  • Discuss current diagnostic approaches for PIDs.
  • Explore future management implications for PIDs.

Main Methods:

  • Review of the 2017 IUIS report on Inborn Errors of Immunity.
  • Analysis of advances in genetic testing and newborn screening (e.g., TREC assay).
  • Examination of evolving diagnostic strategies for PIDs.

Main Results:

  • Over 350 PIDs identified, with at least 50 new disorders recognized between 2015-2017.
  • Increased availability of genetic testing and TREC assay has accelerated PID identification.
  • Recognition of immune dysregulation disorders broadens the scope of PIDs.

Conclusions:

  • Technological advancements in immunogenetics and screening are rapidly expanding the field of PIDs.
  • Discovery of new genetic diseases offers pathways to novel therapeutics.
  • Precision medicine approaches are becoming increasingly relevant for PID management.