Detection of the Carrier State in Combined Immunodeficiency Disease Associated with Adenosine Deaminase Deficiency

Overview

Journal J Clin Invest

Specialty General Medicine

Date 1974 Apr 1

PMID 4815083

Citations 16

Authors

C R Scott

S H Chen

E R GIBLETT

Affiliations

Soon will be listed here.

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.

Citing Articles

A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.

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A new approach to detection of heterozygotes for adenosine deaminase deficiency: a hypothetical method.

Sakura N, Usui T, Ito K, Ha K, Ikeda T, Yabuuchi H Eur J Pediatr. 1981; 137(2):207-10.

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Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assay.

Osborne W, Scott C Am J Hum Genet. 1980; 32(6):927-33.

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The biochemical basis of immunodeficiency disease.

Raivio K Eur J Pediatr. 1980; 135(1):13-20.

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New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

Petersen M, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H J Med Genet. 1987; 24(2):93-6.

PMID: 3560174 PMC: 1049896. DOI: 10.1136/jmg.24.2.93.

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