ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome


CAGDAS D. , CETINKAYA P. G. , KARAATMACA B., Esenboga S. , TAN Ç. , YILMAZ T., ...More

JOURNAL OF CLINICAL IMMUNOLOGY, vol.38, no.4, pp.484-493, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.1007/s10875-018-0496-9
  • Title of Journal : JOURNAL OF CLINICAL IMMUNOLOGY
  • Page Numbers: pp.484-493
  • Keywords: 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

Abstract

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).