| 1 | Genetics of severe combined immunodeficiency显示文摘Severe Combined Immunodeficiency(SCID)is an inherited group of rare,lifethreatening disorders due to the defect in T cell development and function.Clinical manifestations are characterised by recurrent and severe bacterial,viral,and fungal opportunistic infections that start from early infancy period.Haematopoietic stem cell transplantation(HSCT)is the treatment of choice.The pattern of inheritance of SCID may be X-linked or autosomal recessive.Though the diagnosis of SCID is usually established by flow cytometry-based tests,genetic diagnosis is often needed for genetic counselling,prognostication,and modification of pre-transplant chemotherapeutic agents.This review aims to highlight the genetic aspects of SCID. | Rajni Kumrah Pandiarajan Vignesh Pratap Patra Ankita Singh Gummadi Anjani Poonam Saini Madhubala Sharma Anit Kaur Amit Rawat | 2020 | Genes & Diseases2020，7，1： | 2 |
| 2 | An update on the genetics and pathogenesis of hereditary angioedema显示文摘Hereditary angioedema(HAE)is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa.The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement,kinin and hemostatic pathway.Till 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 cells.In this review we aim to summarize the recent advances in the pathogenesis and genetics of HAE.We also provide an overview of possible future prospects in the identification of new genetic defects in HAE. | Aaqib Zaffar Banday Anit Kaur Ankur Kumar Jindal Amit Rawat Surjit Singh | 2020 | Genes & Diseases2020，7，1： | 1 |
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