Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity
ER Giblett, JE Anderson, F Cohen, B Pollara… - The Lancet, 1972 - Elsevier
ER Giblett, JE Anderson, F Cohen, B Pollara, HJ Meuwissen
The Lancet, 1972•ElsevierTwo young unrelated girls with similar but not identical manifestations of immunological
deficiency were found to have no measurable adenosine-deaminase (ADA) enzyme activity
in their red blood-cells. The red-cell ADA levels in the parents of one child were about half
normal and in the other set of parents about two-thirds normal, suggesting they may be
heterozygous, and their affected children homozygous, for a mutant ADA gene. Since the
ADA produced by normal lymphocytes is mainly the kind found in red cells, a causal …
deficiency were found to have no measurable adenosine-deaminase (ADA) enzyme activity
in their red blood-cells. The red-cell ADA levels in the parents of one child were about half
normal and in the other set of parents about two-thirds normal, suggesting they may be
heterozygous, and their affected children homozygous, for a mutant ADA gene. Since the
ADA produced by normal lymphocytes is mainly the kind found in red cells, a causal …
Abstract
Two young unrelated girls with similar but not identical manifestations of immunological deficiency were found to have no measurable adenosine-deaminase (A.D.A.) enzyme activity in their red blood-cells. The red-cell A.D.A. levels in the parents of one child were about half normal and in the other set of parents about two-thirds normal, suggesting they may be heterozygous, and their affected children homozygous, for a mutant A.D.A. gene. Since the A.D.A. produced by normal lymphocytes is mainly the kind found in red cells, a causal association is postulated between the absence of A.D.A. and impaired lymphocyte function in certain patients with inherited immune disease. An alternative possibility of partial chromosomal deletion is also considered.
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