Abstract
Extract: A retrospective study aiming at detection of heterozygous carriers of blood adenosine deaminase (ADA) deficiency was carried out in nine families known to us because children had died of combined immunodeficiency (SCID). The trait was found in 3 of 9 parent couples, and in 14 other relatives. In two families one homozygous patient was identified. A total of 54 family members and 60 healthy control subjects were tested. Clinically, the patients were all characterized by marked lymphopenia, nearly normal immunoglobulin levels, and inability to produce antibodies. One homozygous patient recovered after transplantation of fetal liver and thymus and is immunologically normal 1.5 years afterwards.
Speculation: A cause-effect relation between ADA deficiency and SCID is likely (8, 15, 30). In vitro the accumulation of toxic metabolites as a consequence of the enzyme deficiency inhibits division and/or function of lymphoid cells. In vivo, the same mechanism might lead to SCID by impairing the lymphoid cells. In fact, clinical, immunologic and histologic findings are suggestive of a progressive destruction of lymphatic organs (14). Therefore, this particular kind of SCID is probably not caused by a primary defect of the lymphoid stem cell.
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Ackeret, C., Plüss, H. & Hitzig, W. Hereditary Severe Combined Immunodeficiency and Adenosine Deaminase Deficiency. Pediatr Res 10, 67–70 (1976). https://doi.org/10.1203/00006450-197601000-00013
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DOI: https://doi.org/10.1203/00006450-197601000-00013
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