Inborn errors of immunity: A field without frontiers
Journal
Immunological Reviews
ISSN
0105-2896
1600-065X
Date Issued
2023
Author(s)
Giorgia Bucciol
Selket Delafontaine
Isabelle Meyts
Type
Resource Types::text::journal::journal article
Abstract
<jats:title>Summary</jats:title><jats:p>The study of primary immunodeficiencies or inborn errors of immunity continues to drive our knowledge of the function of the human immune system. From the outset, the study of inborn errors has focused on unraveling genetic etiologies and molecular mechanisms. Aided by the continuous growth in genetic diagnostics, the field has moved from the study of an infection dominated phenotype to embrace and unravel diverse manifestations of autoinflammation, autoimmunity, malignancy, and severe allergy in all medical disciplines. It has now moved from the study of ultrarare presentations to producing meaningful impact in conditions as diverse as inflammatory bowel disease, neurological conditions, and hematology. Beyond offering immunogenetic diagnosis, the study of underlying inborn errors of immunity in these conditions points to targeted treatment which can be lifesaving.</jats:p>
Cite this document
Bucciol, G., Delafontaine, S., Meyts, I., & Poli, C. (2024). Inborn errors of immunity: A field without frontiers. Immunological Reviews, 322(1), 15-27. https://doi.org/10.1111/imr.13297
Subjects
emerging therapies
;
genetic revolution
;
somatic mutations