A girl with diabetes and severe combined immunodeficiency from adenosine deaminase deficiency

J Pediatr Endocrinol Metab. 1997 Jul-Aug;10(4):425-8. doi: 10.1515/jpem.1997.10.4.425.

Abstract

We present a girl with severe combined immunodeficiency (SCID) from adenosine deaminase (ADA) deficiency who developed insulin dependent diabetes mellitus (IDDM). This combination of features has not been previously reported. Because HLA typing (DQbeta-57 Asp/Asp and DQalpha-52 Ser/Ser) showed no alleles usually associated with IDDM, and ICA were repeatedly negative even after treatment with PEG-ADA and gene transplant, hypotheses on the pathogenesis of diabetes mellitus in this patient are discussed.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / genetics
  • Adenosine Deaminase / therapeutic use
  • Autoantibodies / blood
  • Child
  • Diabetes Mellitus, Type 1 / complications*
  • Diabetes Mellitus, Type 1 / immunology
  • Female
  • Gene Transfer Techniques
  • Genetic Therapy
  • HLA-DQ Antigens / analysis
  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • Histocompatibility Testing
  • Humans
  • Severe Combined Immunodeficiency / etiology*

Substances

  • Autoantibodies
  • HLA-DQ Antigens
  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • HLA-DQA1 antigen
  • HLA-DQbeta antigen
  • Adenosine Deaminase
  • pegademase bovine