Adenosine deaminase deficiency without immunodeficiency: Clinical and metabolic studies

William Borkowsky, Anne A. Gershon, Louis Shenkman, Rochelle Hirschhorn

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A child diagnosed at birth as deficient in red blood cell adenosine deaminase (ADA) but with substantial residual lymphocyte ADA has been evaluated for two and one-half years. The only immunologic abnormality observed was hypogammaglobulinemia during the fifth month of life. This was unexpected because children with total ADA deficiency either have severe combined immunodeficiency or selectively greater impairment of cellular than humoral immunity. The absence of severe combined immunodeficiency in this child was associated with normal lymphocyte content of ATP, dATP, and cyclic 3′5′-adenosine monophosphate, potentially toxic metabolites which are elevated in ADA-deficient immunodeficient children. Speculation: Partial deficiency of lymphocyte adenosine deaminase, although sufficient for cell-mediated immune function, may exaggerate physiologic conditions that favor decreased immunoglobulin synthesis. The substance(s) responsible for this effect are probably adenosine metabolites which are of undetermined nature.

Original languageEnglish
Pages (from-to)885-889
Number of pages5
JournalPediatric Research
Issue number7
StatePublished - Jul 1980
Externally publishedYes


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