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. 1987 Nov 25;15(22):9365–9378. doi: 10.1093/nar/15.22.9365

Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.

T M Berkvens 1, E J Gerritsen 1, M Oldenburg 1, C Breukel 1, J T Wijnen 1, H van Ormondt 1, J M Vossen 1, A J van der Eb 1, P Meera Khan 1
PMCID: PMC306474  PMID: 3684597

Abstract

We have investigated the structural gene for adenosine deaminase (ADA) in a female infant with ADA deficiency associated severe combined immune deficiency (ADA-SCID) disease and her family by DNA restriction-fragment-length analysis. In this family a new ADA-specific restriction-fragment-length variant was detected, which involves a 3.2-kb deletion spanning the ADA promoter as well as the first exon. It was found that the patient, who was born to a consanguineous couple, was homozygous and both her parents and her brother were heterozygous for the deletion. No ADA-specific mRNA could be detected by hybridization in fibroblasts derived from this patient. Thus the patient was established to be homozygous for a true null ADA allele. In the light of the apparently normal development of most tissues except the lymphoid tissue the above finding directly questions the classification of ADA as a 'housekeeping' enzyme.

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Selected References

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