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Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies

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Functional genomics in inborn errors of immunity.

Charlotte Hurabielle¹, Taylor N LaFlam², Melissa Gearing¹

¹Division of Rheumatology, Department of Medicine, UCSF, San Francisco, California, USA.

Immunological Reviews

|February 8, 2024

Summary

Inborn errors of immunity (IEI) are a group of 485 genetic disorders. Genomic advancements are accelerating IEI discovery and driving innovative treatments for immune dysregulation.

Keywords:

coding variant functionalization functional genomics inborn errors of immunity non-coding variant functionalization

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Area of Science:

Immunology
Genetics
Human Pathology

Background:

Inborn errors of immunity (IEI) encompass 485 distinct disorders.
While monogenic, IEI offer insights into polygenic immune dysregulation and common infections.
Genomic technology advancements have accelerated IEI discovery and treatment development.

Purpose of the Study:

To review the multifaceted aspects of IEI.
To differentiate between Primary Immunodeficiency Disorders (PIDD) and Primary Immune Regulatory Disorders (PIRD).
To explore the role of Mendelian inheritance and advancements in functional genomics for IEI characterization and treatment.

Main Methods:

Review of current literature on Inborn Errors of Immunity.
Analysis of genomic technologies and their impact on IEI discovery.
Examination of functional genomics and emerging tools for IEI characterization.

Main Results:

IEI classification includes 485 disorders.
Genomic technologies are key drivers in identifying new IEI.
Functional genomics and new tools aid in characterizing novel IEI.

Conclusions:

IEI research illuminates immune system pathways.
Advancements in genomics are crucial for understanding and treating IEI.
Emerging genomic tools promise innovative therapeutic strategies for IEI.