The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Area of Science:

• Immunology
• Genetics
• Medical Science

Background:

• The International Union of Immunological Societies (IUIS) Expert Committee's 2020 classification of inborn errors of immunity (IEI) was rapidly outdated due to new genetic discoveries.
• Frequent publications identify novel genetic variants linked to primary immunodeficiencies (PIDs).

Purpose of the Study:

• To provide a timely update on recent advancements in the field of inborn errors of immunity.
• To highlight newly identified monogenic gene defects causing IEI between major IUIS reports.

Main Methods:

• Literature review of recent studies on inborn errors of immunity.
• Analysis of genetic variants proposed to cause novel IEI.

Main Results:

• Identification of 26 additional monogenic gene defects meeting the criteria for novel causes of immune defects.
• The field of IEI is rapidly expanding with new genetic discoveries.

Conclusions:

• There is a continuous need for updated classifications of inborn errors of immunity.
• Recent research has significantly expanded the known genetic causes of primary immunodeficiencies.