ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome
2018
Introduction
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 celltransplantation (aHSCT), and
hematopoietic stem cellgene therapy (HSCGT).
Keywords:
- Immunology
- Hematopoietic stem cell transplantation
- Intracellular
- Hematopoietic stem cell
- Biology
- Dominance (genetics)
- Enzyme replacement therapy
- Adenosine deaminase
- Primary immunodeficiency
- Genetic enhancement
- Missense mutation
- Compound heterozygosity
- Immunodeficiency
- Gastroenterology
- Internal medicine
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