Recent advances in primary immunodeficiency: from molecular diagnosis to treatment

Giorgia Bucciol; Isabelle Meyts

doi:10.12688/f1000research.21553.1

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment

F1000Res. 2020 Mar 19:9:F1000 Faculty Rev-194. doi: 10.12688/f1000research.21553.1. eCollection 2020.

Authors

Giorgia Bucciol^{1

2}, Isabelle Meyts^{1

2}

Affiliations

¹ Inborn Errors of Immunity, Department of Immunology, Microbiology and Transplantation, KU Leuven, Herestraat 49, Leuven, 3000, Belgium.
² Childhood Immunology, Department of Pediatrics, University Hospitals Leuven, ERN-RITA Core Member, Herestraat 49, Leuven, 3000, Belgium.

Abstract

The technological advances in diagnostics and therapy of primary immunodeficiency are progressing at a fast pace. This review examines recent developments in the field of inborn errors of immunity, from their definition to their treatment. We will summarize the challenges posed by the growth of next-generation sequencing in the clinical setting, touch briefly on the expansion of the concept of inborn errors of immunity beyond the classic immune system realm, and finally review current developments in targeted therapies, stem cell transplantation, and gene therapy.

Keywords: hematopoietic stem cell transplantation; inborn error of immunity; next generation sequencing; primary immunodeficiency; targeted therapy.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Hematopoietic Stem Cell Transplantation*
High-Throughput Nucleotide Sequencing
Humans
Immunity
Primary Immunodeficiency Diseases*

Grants and funding

GB is supported by the Research Foundation - Flanders (project G0C8517N). IM is supported by the Jeffrey Modell Foundation, the Research Foundation - Flanders (project G0C8517N), and the CSL Behring Chair in Primary Immunodeficiency in Children.