Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency

J Clin Immunol. 2024 Sep 12;45(1):8. doi: 10.1007/s10875-024-01794-7.
No abstract available

Keywords: ADA deficiency; Delayed-onset; Enzyme replacement therapy; Hypomorphic ADA.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase* / deficiency
  • Adenosine Deaminase* / genetics
  • Agammaglobulinemia* / drug therapy
  • Agammaglobulinemia* / genetics
  • Agammaglobulinemia* / therapy
  • Enzyme Replacement Therapy* / methods
  • Female
  • Humans
  • Male
  • Mutation / genetics
  • Severe Combined Immunodeficiency
  • Treatment Outcome

Substances

  • Adenosine Deaminase

Supplementary concepts

  • Severe combined immunodeficiency due to adenosine deaminase deficiency