Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency

The Journal of Clinical Investigation
C R ScottE R Giblett

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.

References

Oct 1, 1971·Annals of Human Genetics·Y H EdwardsH Harris
Jul 15, 1970·Biochimica Et Biophysica Acta·H AkedoK Komatsu
May 1, 1968·The Journal of Clinical Investigation·D B WindhorstR A Good
May 1, 1969·Annals of Human Genetics·D A HopkinsonH Harris

Citations

Oct 1, 1980·European Journal of Pediatrics·K O Raivio
Sep 25, 1978·Research in Experimental Medicine. Zeitschrift Für Die Gesamte Experimentelle Medizin Einschliesslich Experimenteller Chirurgie·G P GutterW H Hitzig
Sep 16, 1975·Clinica Chimica Acta; International Journal of Clinical Chemistry·W KörberG Hermann
Sep 1, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·H Ratech, R Hirschhorn
May 15, 1977·Life Sciences·M B Van der Weyden, W N Kelley
Aug 14, 1980·The New England Journal of Medicine·R HirschhornL T Taft
Jan 1, 1976·Proceedings of the National Academy of Sciences of the United States of America·P P TrottaM E Balis
Jan 1, 1976·Proceedings of the National Academy of Sciences of the United States of America·R HirschhornF S Rosen
Jun 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·D L MilesH Eyring
Oct 1, 1976·British Journal of Haematology·M B Van der Weyden, W N Kelley
Oct 1, 1979·Australian and New Zealand Journal of Medicine·C H LeeM C Rozenberg
Dec 23, 1978·British Medical Journal·M A PirasG Andreoni
Sep 1, 1976·The Journal of Clinical Investigation·F F SnyderJ E Seegmiller
Oct 1, 1974·British Journal of Haematology·E L GibsonW A Robinson
Sep 20, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·P Cartier, M Hamet

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