Titlebook: Inborn Errors of Immunity and Phagocytosis; Monograph based upon F. Güttler,J. W. T. Seakins,R. A. Harkness Conference proceedings 1979 The

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Inborn errors of specific immunity: adenosine deaminase deficiency and purine nucleoside phosphorylat and neutrophil granulocyte systems. Inborn errors of specific immunity were not described until recently. In this discussion, we will review the two most important diseases in this latter group, deficiency of adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP). Lack of transcobalam

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Prenatal diagnosis and heterozygote detection in adenosine deaminase deficiencyd upon the pattern of inheritance, at least two different forms of the syndrome exist: an X-linked and an autosomal recessive form. In a proportion of families with the autosomal recessive form of SCID, the disorder is due to an inherited deficiency of the purine salvage enzyme, adenosine deaminase

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Purine nucleoside phosphorylase deficiency associated with cellular immunodeficiency: immunological ves for treatment. The causal relationship between ADA or PNP deficiency and severe combined immunodeficiency (SCID) and selective cellular immunodeficiency respectively is generally accepted. Possible mechanisms leading to the lymphocyte dysfunctions were recently reviewed by Polmar..

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Purine nucleoside phosphorylase deficiency associated with cellular immunodeficiency: metabolic studrine metabolism in this disease is limited.. The data available suggest that PNP deficiency brings about major metabolic disturbances. A massive urinary excretion of inosine, guanosine and the corresponding deoxynucleosides was observed. Presumably these metabolites replace uric acid as the principa

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