PMID: 46025Jan 11, 1975

Adenosine-deaminase deficiency in a child diagnosed prenatally

Lancet
R HirschhornS Polmar

Abstract

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.

References

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
Dec 9, 1976·The New England Journal of Medicine·S H PolmarR Hirschhorn
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
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
Apr 1, 1981·Journal of Medical Genetics·J B ZieglerA Daniel
Oct 1, 1979·The Journal of Clinical Investigation·R HirschhornW Borkowsky
Oct 1, 1990·Clinical Biochemistry·C van der Heiden
Oct 1, 1981·The American Journal of Medicine·E L Reinherz, F S Rosen
Feb 1, 1994·The Journal of Allergy and Clinical Immunology·D T UmetsuMichael S Hershfield
Sep 24, 2005·Molecular Genetics and Metabolism·William L Nyhan
Apr 1, 1982·Prenatal Diagnosis·A DurandyR Henrion
Oct 2, 1975·Nature·B M TurnerK Hirschhorn
Dec 1, 1979·CRC Critical Reviews in Clinical Laboratory Sciences·S B Taubman
Dec 1, 1976·Klinische Wochenschrift·B H BelohradskyH H Fudenberg
Jan 1, 1976·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·R Matalon
Jun 28, 1979·European Journal of Pediatrics·A B Kenny, W H Hitzig
Oct 1, 1991·DICP : the Annals of Pharmacotherapy·C R LeeR Whaley

Citations

Apr 3, 1975·The New England Journal of Medicine·R ParkmanR Hirschhorn

Related Concepts

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

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