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J Clin Invest. Apr 1974; 53(4): 1194–1196.
PMCID: PMC333106
Detection of the Carrier State in Combined Immunodeficiency Disease Associated with Adenosine Deaminase Deficiency
C. Ronald Scott, Shi-Han Chen, and Eloise R. Giblett
Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98195
King County Central Blood Bank, Inc., Seattle, Washington 98195
Abstract
A large pedigree containing a child with severe combined immunodeficiency disease (CID) associated with adenosine deaminase (ADA) deficiency was investigated to ascertain if heterozygotes could be detected by measuring red cell ADA activity. 9 of 17 individuals in three generations who were at risk for being heterozygous had decreased red cell ADA activity. This genetic information establishes one form of CID as an autosomal recessive disorder. The identified heterozygote population had a mean ADA value of 19.2 U/g hemoglobin (0.95 confidence interval; 14.0 to 24.4 U/g hemoglobin), which was approximately one-half the mean, 36.1 U/g hemoglobin, of a randomly selected control population (0.95 confidence interval; 22.5-58.1 U/g hemoglobin). Statistical comparisons of the heterozygotes to the normal population indicates that within a high-risk family heterozygotes may be identified with 90% confidence.
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