Severe combined immunodeficiency in a child with a healthy adenosine deaminase deficient mother.
We investigated adenosine deaminase (ADA) deficient severe-combined immunodeficiency (SCID) in an 8-month-old child with ADA deficient mother. The ADA deficiency in the child was unusual in that the thymic histology was normal. In addition, the thymocytes formed E-rosettes with sheep erythrocytes and were stimulated by T-cell mitogens. ADA activity could not be detected in the child's thymocytes. Studies on the family indicated that the father had about one-half of the normal erythrocyte ADA activity. All the family members with detectable ADA activity appeared to have, according to starch gel electrophoresis of erythrocyte lysates, the common ADA-1 phenotype; however, rigorous identification of phenotype was not possible in this study. The mother had less than 1% of normal ADA activity in both erythrocyte and lymphocyte extracts, but her whole peripheral blood lymphocytes demonstrated about 6% of normal activity. Normal concentrations of ATP and small amounts of dATP were found in the mother's erythrocytes. Deoxyadenosine excretion in her urine was elevated and approximately 5-10% of that excreted by individuals with ADA deficient SCID. These studies suggest that low amounts of ADA activity in erythrocytes and blood lymphocytes of certain individuals may be compatible with good immune function and longevity.
D000243:Adenosine Deaminase / Q000172:deficiency*; D000255:Adenosine Triphosphate / Q000378:metabolism; D003838:Deoxyadenine Nucleotides / Q000378:metabolism; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D008213:Lymphocyte Activation; D009700:Nucleoside Deaminases / Q000172:deficiency*; D010375:Pedigree; D012397:Rosette Formation; D013601:T-Lymphocytes / Q000276:immunology; D013950:Thymus Gland / Q000473:pathology
D003838:Deoxyadenine Nucleotides; D000255:Adenosine Triphosphate; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase