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MANAGEMENT OF ADENOSINE DEAMINASE DEFICIENCY: A REVIEW ARTICLE

Amnah Alhazmi , Bushra Alhazmi , Dhabiah AlQahtani

Adenosine deaminase 1 [ADA] deficiency is a very rare condition inherited in an autosomal recessive pattern. Dysfunctional ADA enzyme activity result in toxic metabolite buildup within the cells compromising many body systems, most importantly the immune system integrity. Majority of patients with ADA deficiency suffer from severe combined immune deficiency [SCID]. If left untreated, patients usually succumb to infection before the age of two years. The management of ADA-SCID is complex and require both supportive measures to boost the immune system along with definitive treatment. The aim of this paper is to present an overview of ADA deficiency and the available treatment modalities. Key words: adenosine deaminase deficiency, enzyme replacement therapy, hematopoietic stem cell transplantation, gene therapy, immunity.

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