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

Genetics of severe combined immunodeficiency

Genes Dis. 2019 Jul 24;7(1):52-61. doi: 10.1016/j.gendis.2019.07.004. eCollection 2020 Mar.

Authors

Rajni Kumrah¹, Pandiarajan Vignesh¹, Pratap Patra¹, Ankita Singh¹, Gummadi Anjani¹, Poonam Saini¹, Madhubala Sharma¹, Anit Kaur¹, Amit Rawat¹

Affiliation

¹ Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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.

Keywords: Adenosine deaminase; Flow cytometry; Genetics; Newborn screening; Severe combined immunodeficiency.

Publication types

Review