PMID: 46025Jan 11, 1975

Adenosine-deaminase deficiency in a child diagnosed prenatally

R HirschhornS Polmar


Deficiency of red-blood-cell adenosine deaminase (R.B.C.-A.D.A.) has been reported in a proportion of patients with the autosomal recessive form of severe combined immunodeficiency (S.C.I.D.). In a family in which a child had died with S.C.I.D., R.B.C.-A.D.A. levels in the parents and other members of the family were compatible with a heterozygous state for A.D.A. deficiency. Cultured amniotic-fluid cells obtained from a subsequent pregnancy contained less than 1.5% of A.D.A. activity of normal amniotic cultures. The prenatal diagnosis of A.D.A. deficiency was confirmed at birth by the absence of A.D.A. ACTIVITY IN THE CHILD'S RED-BLOOD-CELLS. Clinical and laboratory findings in this child are similar to those of the sibling who had died with S.C.I.D.


Apr 1, 1986·European Journal of Pediatrics·E Carapella De LucaH A Simmonds
Oct 13, 1978·Blut·H J Meuwissen, B Pollara
May 15, 1977·Life Sciences·M B Van der Weyden, W N Kelley
Apr 3, 1975·The New England Journal of Medicine·R ParkmanR Hirschhorn
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Feb 22, 1979·The New England Journal of Medicine·A RubinsteinR A Murphy
Jan 1, 1976·Proceedings of the National Academy of Sciences of the United States of America·R HirschhornF S Rosen
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Oct 1, 1990·Clinical Biochemistry·C van der Heiden
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Apr 1, 1982·Prenatal Diagnosis·A DurandyR Henrion
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Jan 1, 1976·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·R Matalon
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Apr 3, 1975·The New England Journal of Medicine·R ParkmanR Hirschhorn

Related Concepts

Immunologic Deficiency Syndromes
Clinical Enzyme Tests (Procedure)
Antenatal Screening Procedures
Differential White Blood Cell Count Procedure
Conditions, Recessive Genetic
Amniotic Fluid Index
Genetic Polymorphism

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