0000000000986183

AUTHOR

Farrukh R. Sheikh

showing 2 related works from this author

The Expanding Spectrum of Mutations in Hereditary Angioedema.

2021

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…

Kininogen 1Muscle ProteinsGenomicsSeverity of Illness IndexDNA sequencingC1-inhibitorPathogenesis03 medical and health sciencessymbols.namesake0302 clinical medicineImmunology and AllergyMedicineHumans030212 general & internal medicineGeneSanger sequencingGeneticsbiologybusiness.industryCalcium-Binding ProteinsAngioedemas HereditaryMembrane Proteinsmedicine.disease030228 respiratory systemHereditary angioedemaMutationbiology.proteinsymbolsbusinessComplement C1 Inhibitor ProteinThe journal of allergy and clinical immunology. In practice
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Definition, aims, and implementation of GA [sup] 2 LEN/HAEi Angioedema Centers of Reference and Excellence

2020

This document summarizes the aims of GA2 LEN/HAEi Angioedema Centers of Reference and Excellence (ACAREs) and elaborates the requirements that ACAREs must fulfill to become certified. It also provides (see Appendix S1) background information on GA2LEN and HAEi, including HAEi member organizations and regional patient advocates, on why we need an Angioedema Center of Reference and Excellence (ACARE) program and network, and on the accreditation and certification process, governance and funding, and on the interaction with other GA2LEN networks of centers of reference and excellence. The protocols, aims, requirements, and provisions related to becoming a certified CARE are based on (a) the ex…

medicine.medical_specialtyEdema angioneuròticUrticariamedia_common.quotation_subjectImmunologyeducationGA2LENAngioedema; Center; Excellence; Management; Urticariaurticariacentres of reference and excelenceExcellenceimmune system diseasescentermedicineImmunology and AllergyCenter (algebra and category theory)Angioneurotic edemaskin and connective tissue diseasesmedia_commonudc:616.1Angioedemabusiness.industryangioedemahumanitiesreferenčni centri odličnostiMedicine; Allergy; ImmunologyFamily medicineexcellencemedicine.symptombusinessGlobal Allergy and Asthma European NetworkUrticàriamanagement
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