Genetics of severe combined immunodeficiency

Rajni Kumrah; Pandiarajan Vignesh; Pratap Patra; Ankita Singh; Gummadi Anjani; Poonam Saini; Madhubala Sharma; Anit Kaur; Amit Rawat

doi:10.1016/j.gendis.2019.07.004

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Genetics of severe combined immunodeficiency

Review article | 更新时间：2022-06-24

- Genetics of severe combined immunodeficiency
- Genetics of severe combined immunodeficiency
- Genes & Diseases 2020年7卷第1期
- 作者机构：
  
  Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research,Chandigarh,India
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.07.004
  中图分类号：
- 纸质出版日期：2020，
  
  网络出版日期：2020-3-1，
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Rajni Kumrah, Pandiarajan Vignesh, Pratap Patra, 等. Genetics of severe combined immunodeficiency[J]. Genes & Diseases, 2020,7(1).

Rajni Kumrah, Pandiarajan Vignesh, Pratap Patra, et al. Genetics of severe combined immunodeficiency[J]. Genes & Diseases, 2020,7(1).
Rajni Kumrah, Pandiarajan Vignesh, Pratap Patra, 等. Genetics of severe combined immunodeficiency[J]. Genes & Diseases, 2020,7(1). DOI： 10.1016/j.gendis.2019.07.004.

Rajni Kumrah, Pandiarajan Vignesh, Pratap Patra, et al. Genetics of severe combined immunodeficiency[J]. Genes & Diseases, 2020,7(1). DOI： 10.1016/j.gendis.2019.07.004.

摘要

Abstract

Severe Combined Immunodeficiency (SCID) is an inherited group of rare

life-threatening 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.

关键词

Keywords

Adenosine deaminaseFlow cytometryGeneticsNewborn screeningSevere combined immunodeficiency

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