Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.

Journal Article (Journal Article)

INTRODUCTION: Adenosine deaminase (ADA) deficiency causes severe immunodeficiency that is lethal in infancy. Enzyme replacement therapy (ERT) can improve the metabolic, immune and non-immune abnormalities in patients prior to transplantation, however, its benefits over extended periods are not well characterized. We describe a 28-year-old female who received ERT for 27 years. She suffered from EBV negative B cell lymphoma of the hip at 14 years of age and Guillian-Barre Syndrome 2 years later. At 22 years of age, she experienced a gastrointestinal infection with Mycobacterium genavense. At 26 years of age, lymphoma reoccurred with multiple liver lesions followed by Mycobacterium genavense infection with dissemination to the brain. Throughout this period, ADA activity in the plasma was within the therapeutic range. Repeated evaluations demonstrated very low lymphocyte counts and impaired T cell function. CONCLUSIONS: ERT might be insufficient to maintain normal immunity over extended periods in some ADA-deficient patients.

Full Text

Duke Authors

Cited Authors

  • Grunebaum, E; Reid, B; Naqvi, A; Hershfield, MS; Kim, VH-D; Muller, MP; Hicks, LK; Lee, E; Betschel, S; Roifman, CM

Published Date

  • February 2020

Published In

Volume / Issue

  • 211 /

Start / End Page

  • 108321 -

PubMed ID

  • 31812707

Electronic International Standard Serial Number (EISSN)

  • 1521-7035

Digital Object Identifier (DOI)

  • 10.1016/j.clim.2019.108321


  • eng

Conference Location

  • United States