Inborn errors of immunity: A field without frontiers.

Autor: Bucciol G; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Delafontaine S; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Meyts I; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Poli C; Facultad de Medicina Universidad del Desarrollo-Clínica Alemana, Santiago, Chile.; Unidad de Inmunología y Reumatología, Hospital Roberto del Río, Santiago, Chile.
Jazyk: angličtina
Zdroj: Immunological reviews [Immunol Rev] 2024 Mar; Vol. 322 (1), pp. 15-27. Date of Electronic Publication: 2023 Dec 08.
DOI: 10.1111/imr.13297
Abstrakt: 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.
(© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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