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Recent advances in elucidating the genetics of common variable immunodeficiency

Genes & Diseases 2020年第1期7卷 26-37页

作者： Vaishali Aggarwal aaqib zaffar banday Ankur Kumar Jindal Jhumki Das Amit Rawat Allergy and Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Common variable immunodeficiency disorders(CVID),a heterogeneous group of inborn errors of immunity,is the most common symptomatic primary immunodeficiency *** with CVID have highly variable clinical *** the advent of whole genome sequencing and genome wide association studies(GWAS),there has been a remarkable improvement in understanding the genetics of *** has also helped in understanding the pathogenesis of CVID and has drastically improved the management of these patients.A multiomics approach integrating the DNA sequencing along with RNA sequencing,proteomics,epigenetic and metabolomics profile is the need of the hour to unravel specific CVID associated disease pathways and novel therapeutic *** this review,we elaborate various techniques that have helped in understanding the genetics of CVID.

关键词： Common variable immunodeficiency(CVID) Epigenome Genetics Next generation sequencing(NGS) Transcriptome

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An update on the genetics and pathogenesis of hereditary angioedema

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Genes & Diseases 2020年第1期7卷 75-83页

作者： aaqib zaffar banday Anit Kaur Ankur Kumar Jindal Amit Rawat Surjit Singh Allergy Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Hereditary angioedema(HAE)is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and *** pathogenesis of HAE reflects an intricate coordinated regulation of components of complement,kinin and hemostatic *** date,mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1(SERPING1),factor XII(F12),plasminogen(PLG)and angiopoietin 1(ANGPT 1).These mutations lead to increased bradykinin 2 receptor mediated signalling via increased production of bradykinin except mutations in ANGPT1 gene that disturbs the cytoskeletal assembly of vascular endothelial *** this review we aim to summarize the recent advances in the pathogenesis and genetics of *** also provide an overview of possible future prospects in the identification of new genetic defects in HAE.

关键词： Angiopoietin 1 C1 inhibitor Factor XII Genetics Hereditary angioedema Plasminogen

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