Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies.
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency; D000243:Adenosine Deaminase / Q000172:deficiency; D000911:Antibodies, Monoclonal; D002824:Chorionic Villi / Q000201:enzymology; D004796:Clinical Enzyme Tests; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis*; D007223:Infant; D007958:Leukocyte Count; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000145:classification; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
D000911:Antibodies, Monoclonal; D011683:Purine-Nucleoside Phosphorylase; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; D000243:Adenosine Deaminase; D009964:Orotidine-5'-Phosphate Decarboxylase