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Genetics of severe combined immunodeficiency

24 Jul 2019

Abstract excerpt

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...

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PMID: 32181275
DOI: 10.1016/j.gendis.2019.07.004

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