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The Journal of Immunology, Vol 138, Issue 10 3203-3206, Copyright © 1987 by American Association of Immunologists

ARTICLES

Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency

ML Markert, MS Hershfield, DA Wiginton, JC States, FE Ward, SH Bigner, RH Buckley, RE Kaufman and JJ Hutton

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 sequences. 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.


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F. X. Arredondo-Vega, I. Santisteban, E. Richard, P. Bali, M. Koleilat, M. Loubser, A. Al-Ghonaium, M. Al-Helali, and M. S. Hershfield
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