Expanding the diagnostic toolbox for complex genetic immune disorders.

Autor: Abrams ED; Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pa., Basu A; Diagnostic Immunology Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio., Zavorka Thomas ME; Diagnostic Immunology Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio., Henrickson SE; Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pa; Institute for Immunology and Immune Health, University of Pennsylvania, Philadelphia, Pa; Department of Microbiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa., Abraham RS; Diagnostic Immunology Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio. Electronic address: Roshini.Abraham@nationwidechildrens.org.
Jazyk: angličtina
Zdroj: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Nov 23. Date of Electronic Publication: 2024 Nov 23.
DOI: 10.1016/j.jaci.2024.11.022
Abstrakt: Laboratory-based immunology evaluation is essential to the diagnostic workup of patients with complex immune disorders, and is as essential, if not more so, depending on the context, as genetic testing, because it enables identification of aberrant pathways amenable to therapeutic intervention and clarifies variants of uncertain significance. There have been considerable advances in techniques and instrumentation in the clinical laboratory in the past 2 decades, although there are still "miles to go." One of the goals of the clinical laboratory is to ensure advanced diagnostic testing is widely accessible to physicians and thus patients, through reference laboratories, particularly in the context of academic medical centers. This ensures a greater likelihood of translating research discoveries into the diagnostic laboratory, on the basis of patient care needs rather than a sole emphasis on commercial utility. However, these advances are under threat from burdensome regulatory oversight that can compromise, at best, and curtail, at worst, the ability to rapidly diagnose rare immune disorders and ensure delivery of precision medicine. This review discusses the clinical utility of diagnostic immunology tools, beyond cellular immunophenotyping of lymphocyte subsets, which can be used in conjunction with clinical and other laboratory data for diagnosis as well as monitoring of therapeutic response in patients with genetic immunologic diseases.
Competing Interests: Disclosure statement Disclosure of potential conflict of interest: R. S. Abraham has an investigator-initiated grant with Amgen. S. E. Henrickson receives grant funding from the Burroughs Wellcome Fund, The Hartwell Foundation, and Chan Zuckerberg Initiative. The rest of the authors declare that they have no relevant conflicts of interest.
(Copyright © 2024 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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