The Expanding Spectrum of Mutations in Hereditary Angioedema.

Autor:	Veronez CL; Division of Rheumatology, Allergy and Immunology, Department of Medicine, University of California San Diego, San Diego, Calif; Research Service, San Diego Veterans Affairs Healthcare, San Diego, Calif. Electronic address: clopesveronez@ucsd.edu., Csuka D; Hungarian Angioedema Center of Reference and Excellence, Department of Internal Medicine and Haematology, Semmelweis University, Budapest, Hungary., Sheikh FR; Allergy & Immunology Clinic, Lahore, Pakistan., Zuraw BL; Division of Rheumatology, Allergy and Immunology, Department of Medicine, University of California San Diego, San Diego, Calif; Research Service, San Diego Veterans Affairs Healthcare, San Diego, Calif., Farkas H; Hungarian Angioedema Center of Reference and Excellence, Department of Internal Medicine and Haematology, Semmelweis University, Budapest, Hungary., Bork K; Department of Dermatology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Jazyk:	angličtina
Zdroj:	The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2021 Jun; Vol. 9 (6), pp. 2229-2234. Date of Electronic Publication: 2021 Mar 19.
DOI:	10.1016/j.jaip.2021.03.008
Abstrakt:	The evolution in the knowledge of rare genetic diseases such as hereditary angioedema (HAE) has increased at a parallel pace with the development of new molecular tools. The deficiency of C1 inhibitor (C1-INH) has been recognized as the main cause of HAE (HAE-C1-INH) since the 1960s, but the discovery of the wide spectrum of mutations affecting the C1-INH gene (SERPING1) was possible only from the late 1980s, when Sanger sequencing became available and more accessible worldwide. Nevertheless, the involvement of other genes in HAE was discovered only in 2006 with the description of mutations in the F12 gene in patients with HAE and normal C1-INH. In the last 3 years, advanced next-generation sequencing techniques allowed the identification of mutations in 5 new genes being associated with HAE and normal C1-INH: ANGPT1 (angiopoietin-1), PLG (plasminogen), KNG1 (kininogen), MYOF (myoferlin), and HS3ST6 (heparan sulfate-glucosamine 3-O-sulfotransferase 6). The knowledge provided by the new era of genomic studies was pivotal in the discovery of mutations in new genes responsible for this complex pathogenesis. Genomics advances promise a better understanding of unknown mechanisms leading to HAE, the establishment of new molecular targets for novel therapeutic agents, and personalized treatment. (Copyright © 2021 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu