Metabolic Causes of Immune Deficiency: Mechanisms and Treatment

  • B. J. M. Zegers
  • J. W. Stoop
Part of the Immunology and Medicine Series book series (IMME, volume 8)


In 1972, Dr Eloise R. Giblett, a haematologist, and her pediatrician colleagues described two unrelated children whose blood erythrocytes (and lymphocytes) lacked the purine enzyme adenosine deaminase (ADA)1. Both children suffered from a severe combined immune deficiency disease (SCID). At the same time a Danish group described two similar children with ADA deficiency associated with SCID2. It was suggested in these early reports that the defect in the immune system was caused by the enzyme deficiency. It was soon appreciated that the defect was inherited as an autosomal recessive, although it was some time before the enzyme deficiency could be mechanistically related to the immune deficiency. There was another major advance when Dr Giblett discovered another purine enzyme deficiency (purine nucleoside phosphorylase, PNP) in a patient with a selective cellular immune deficiency resembling the Nezelof syndrome3. The discovery of more PNP deficient patients showed that this was also an autosomal recessive disease4,5. Nowadays ADA and PNP deficiency are recognized as the primary cause of the associated immune deficiency.


Immune Deficiency Adenosine Deaminase Ribonucleotide Reductase Purine Nucleoside Phosphorylase Deoxycytidine Kinase 
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Copyright information

© Kluwer Academic Publishers 1988

Authors and Affiliations

  • B. J. M. Zegers
  • J. W. Stoop

There are no affiliations available

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