JOURNAL OF CLINICAL IMMUNOLOGY, vol.38, no.4, pp.484-493, 2018 (Journal Indexed in SCI)
Article / Article
Title of Journal :
JOURNAL OF CLINICAL IMMUNOLOGY
Late-onset adenosine deaminase deficiency, SCID, ADA enzyme replacement therapy, SEVERE COMBINED IMMUNODEFICIENCY, ADENOSINE-DEAMINASE DEFICIENCY, SINGLE-CENTER EXPERIENCE, GENE-THERAPY, PHENOTYPE, GENOTYPE, MUTATION, IMMUNITY, DISEASE, ONSET
Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (aHSCT), and hematopoietic stem cell gene therapy (HSCGT).