International Consensus on the Use of Genetics in the Management of Hereditary Angioedema
dc.creator | Germenis A.E., Margaglione M., Pesquero J.B., Farkas H., Cichon S., Csuka D., Lera A.L., Rijavec M., Jolles S., Szilagyi A., Trascasa M.L., Veronez C.L., Drouet C., Zamanakou M., Andrejevic S., Aygören-Pürsün E., Bara N.-A., Bernstein J., Bork K., Bouillet L., Bova M., Boysen H.H., Bygum A., Caballero T., Castaldo A., Christiansen S., Cicardi M., Fabiani J., Katelaris C., Dewald G., Gökmen N.M., Gonzalez-Quevedo M.T., Gooi J., Grivcheva-Panovska V., Grumach A., Hakl R., Hardy G., Jesenak M., Kaplan A., Kirschfink M., Köhalmi K.V., Leibovich I., Longhurst H.J., Lumry W., Magerl M., Saguer I.M., Nagy I.B., Nieto S., Nordenfelt P., Porębski G., Psarros F., Reshef A., Riedl M.A., Sheikh F., Peter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Waserman S., Weber C., Wuillemin W., Zuraw B. | en |
dc.date.accessioned | 2023-01-31T07:41:12Z | |
dc.date.available | 2023-01-31T07:41:12Z | |
dc.date.issued | 2020 | |
dc.identifier | 10.1016/j.jaip.2019.10.004 | |
dc.identifier.issn | 22132198 | |
dc.identifier.uri | http://hdl.handle.net/11615/72215 | |
dc.description.abstract | Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from HAE has become diagnostically indispensable in clinical practice. The synthesis and interpretation of the clinical and biochemical analyses to facilitate appropriate genetic test selection has thus also become significantly more complex. With this in mind, an international multidisciplinary group of 14 experts in HAE genetics and disease management was convened in October 2018. The objective was to develop clear, actionable, evidence- and consensus-based statements aiming to facilitate the communication between physicians treating patients with HAE and clinical geneticists, and thus promote the effective use of genetics in the management of the disease. Eleven consensus statements were generated, encompassing considerations regarding the clinical indications for genotyping patients with angioedema, the methods of detection of HAE-causative variants, the variant pathogenicity curation, the genotyping of patients with HAE in the clinic, and genetic counseling. These statements are intended both to guide clinicians and to serve as a framework for future educational and further genetic testing developments as the field continues to evolve rapidly. © 2019 American Academy of Allergy, Asthma & Immunology | en |
dc.language.iso | en | en |
dc.source | Journal of Allergy and Clinical Immunology: In Practice | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85075444943&doi=10.1016%2fj.jaip.2019.10.004&partnerID=40&md5=35ce74483e5d7211cd1b31494159917e | |
dc.subject | angiopoietin 1 | en |
dc.subject | blood clotting factor 13 | en |
dc.subject | complement component C1 | en |
dc.subject | plasminogen | en |
dc.subject | complement component C1s inhibitor | en |
dc.subject | 3' untranslated region | en |
dc.subject | 5' untranslated region | en |
dc.subject | analytical phase | en |
dc.subject | angioneurotic edema | en |
dc.subject | clinical laboratory | en |
dc.subject | clinical research | en |
dc.subject | conception | en |
dc.subject | consensus development | en |
dc.subject | evidence based practice | en |
dc.subject | evolutionary adaptation | en |
dc.subject | exon | en |
dc.subject | family planning | en |
dc.subject | fertilization | en |
dc.subject | gene mutation | en |
dc.subject | gene nomenclature | en |
dc.subject | gene segregation | en |
dc.subject | genetic counseling | en |
dc.subject | genetic disorder | en |
dc.subject | genetic screening | en |
dc.subject | genetic variability | en |
dc.subject | genotype | en |
dc.subject | human | en |
dc.subject | human genetics | en |
dc.subject | incidental finding | en |
dc.subject | intron | en |
dc.subject | medical geneticist | en |
dc.subject | medical genetics | en |
dc.subject | molecular diagnosis | en |
dc.subject | mutator gene | en |
dc.subject | newborn screening | en |
dc.subject | nonhuman | en |
dc.subject | pathogenicity | en |
dc.subject | pedigree analysis | en |
dc.subject | penetrance | en |
dc.subject | post-analytical phase | en |
dc.subject | practice guideline | en |
dc.subject | pre-analytical phase | en |
dc.subject | preimplantation genetic diagnosis | en |
dc.subject | quality control | en |
dc.subject | Review | en |
dc.subject | risk factor | en |
dc.subject | SERPING1 gene | en |
dc.subject | single nucleotide polymorphism | en |
dc.subject | treatment indication | en |
dc.subject | angioneurotic edema | en |
dc.subject | consensus | en |
dc.subject | genetics | en |
dc.subject | Angioedema | en |
dc.subject | Angioedemas, Hereditary | en |
dc.subject | Complement C1 Inhibitor Protein | en |
dc.subject | Consensus | en |
dc.subject | Genetic Counseling | en |
dc.subject | Genetic Testing | en |
dc.subject | Humans | en |
dc.subject | American Academy of Allergy, Asthma and Immunology | en |
dc.title | International Consensus on the Use of Genetics in the Management of Hereditary Angioedema | en |
dc.type | other | en |
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