Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.

Autor:	Lyons JJ; Translational Allergic Immunopathology Unit, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: jonathan.lyons@nih.gov., Farkas H; Department of Internal Medicine and Haematology, Hungarian Angioedema Center of Reference and Excellence, Semmelweis University, Budapest, Hungary., Germenis AE; Department of Immunology and Histocompatibility, School of Medicine, University of Thessaly, Larissa, Greece., Rijavec M; University Clinic of Respiratory and Allergic Diseases Golnik, Golnik, Slovenia; Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia., Smith TD; Division of Rheumatology, Allergy and Immunology, University of California San Diego, La Jolla, Calif., Valent P; Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria; Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria.
Jazyk:	angličtina
Zdroj:	The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2023 Aug; Vol. 11 (8), pp. 2286-2301. Date of Electronic Publication: 2023 May 30.
DOI:	10.1016/j.jaip.2023.05.031
Abstrakt:	Advances in next generation sequencing technologies, as well as their expanded accessibility and clinical use over the past 2 decades, have led to an exponential increase in the number of identified single gene disorders. Among these are primary atopic disorders-inborn errors of immunity resulting in severe allergic phenotypes as a primary presenting feature. Two cardinal aspects of type I immediate hypersensitivity allergic reactions are hives and angioedema. Mast cells (MCs) are frequent primary drivers of these symptoms, but other cells have also been implicated. Even where MC degranulation is believed to be the cause, mediator-induced symptoms may greatly vary among individuals. Angioedema-particularly in the absence of hives-may also be caused by hereditary angioedema conditions resulting from aberrant regulation of contact system activation and excessive bradykinin generation or impairment of vascular integrity. In these patients, swelling can affect unpredictable locations and fail to respond to MC-directed therapies. Genetic variants have helped delineate key pathways in the etiology of urticaria and nonatopic angioedema and led to the development of targeted therapies. Herein, we describe the currently known inherited and acquired genetic causes for these conditions, highlight specific features in their clinical presentations, and discuss the benefits and limitations of biomarkers that can help distinguish them. (Published by Elsevier Inc.)
Databáze:	MEDLINE
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