Severe combined immunodeficiency and adenosine deaminase deficiency.
Because others had described a lack of the enzyme adenosine deaminase as associated with severe combined immunodeficiency, we surveyed kindreds with infants affected with such an immunodeficiency. Three infants in two families with severe combined immunodeficiency were found to have no detectable erythrocyte adenosine deaminase. Eleven family members heterozygous for adenosine deaminase deficiency were encountered among the first-degree relatives; adenosine deaminase deficiency and severe combined immunodeficiency were associated and inherited as autosomal recessive traits in both kindreds. Successful bone-marrow transplantation was carried out in two of these infants. Normal immunologic function was established in both children, but the deficiency of adenosine deaminase persisted in their erythrocytes. The enzyme deficiency did not impair the successful establishment of normal humoral and cellular immunity by transplants of bone-marrow cells from siblings who were either normal or heterozygous for adenosine deaminase deficiency.
D000241:Adenosine; D000619:Aminohydrolases / Q000097:blood / Q000172:deficiency*; D001854:Bone Marrow Cells; D016026:Bone Marrow Transplantation; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006680:HLA Antigens / Q000032:analysis; D006579:Heterozygote; D006650:Histocompatibility Testing; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014184:Transplantation, Homologous; D014529:Uridine / Q000494:pharmacology
D006680:HLA Antigens; D000619:Aminohydrolases; D000241:Adenosine; D014529:Uridine