Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency
Markert, M.L.; Hershfield, M.S.; Wiginton, D.A.; States, J.C.; Ward, F.E.; Bigner, S.H.; Buckley, R.H.; Kaufman, R.E.; Hutton, J.J.
Journal of Immunology 138(10): 3203-3206
1987
ISSN/ISBN: 0022-1767 PMID: 3571974 Document Number: 295439
A patient with adenosine deaminase-deficient severe combined immunodeficiency is described whose defect is secondary to deletion of a portion of the ADA structural gene. In Southern analyses, DNA from this patient does not hybridize to a genomic probe that includes the 3' end of exon 1. This implies that both his parents are heterozygous for deletions of exon 1 sequencies. Consistent with this finding, the patient has no detectable adenosine deaminase mRNA by Northern analysis. This is the first report of a deletion mutation as the cause of adenosine deaminase deficiency.