Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies

J Pediatr. 1987 Oct;111(4):595-8. doi: 10.1016/s0022-3476(87)80129-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenine Phosphoribosyltransferase / deficiency
  • Adenosine Deaminase / deficiency
  • Antibodies, Monoclonal
  • Chorionic Villi / enzymology
  • Clinical Enzyme Tests
  • Female
  • Fetal Diseases / diagnosis*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / diagnosis*
  • Infant
  • Leukocyte Count
  • Lymphocyte Activation
  • Lymphocytes / classification
  • Orotidine-5'-Phosphate Decarboxylase / deficiency
  • Pregnancy
  • Prenatal Diagnosis*
  • Purine-Nucleoside Phosphorylase / deficiency
  • Purine-Pyrimidine Metabolism, Inborn Errors / complications
  • Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics

Substances

  • Antibodies, Monoclonal
  • Purine-Nucleoside Phosphorylase
  • Adenine Phosphoribosyltransferase
  • Hypoxanthine Phosphoribosyltransferase
  • Adenosine Deaminase
  • Orotidine-5'-Phosphate Decarboxylase