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., ...Daha Fazla

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.38, sa.4, ss.484-493, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s10875-018-0496-9
  • Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.484-493
  • Anahtar Kelimeler: 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
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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).