Hereditary Severe Combined Immunodeficiency and Adenosine Deaminase Deficiency
نویسندگان
چکیده
منابع مشابه
Adenosine deaminase deficiency and severe combined immunodeficiency disease.
The nature of the association of adenosine deaminase deficiency and severe combined immunodeficiency disease is reviewed . The basis for the molecular heterogeneity exhibited by adenosine deaminase in human tissue and the mechanisms whereby a deficiency of this activity results in the extreme perturbation of the immune system as observed in severe combined immunodeficiency are critically discus...
متن کاملCombined Immunodeficiency Disease and Adenosine Deaminase Deficiency. A Molecular Defect
mice are discussed by Alfred S. Steinberg who presents data in support of the idea that early loss of a thymic regulatory function in these mice may account for a breakdown in tolerance to "self" and certain other antigens, leading to excessive antibody responses with immune complex formation. The last two chapters, one by Stanley A. Plotkin, the other by Frautisek Sokol, deal, respectively, wi...
متن کاملEffect of adenosine deaminase replacement therapy on a child of adenosine deaminase deficiency with severe combined immunodeficiency disease.
Enzyme replacement therapy was performed for a 1-year and 5-month old boy with adenosine deaminase deficiency disease, the first case in Japan. Irradiated fresh red blood cells were administered without any clinical improvement, but there was an increase in the peripheral lymphocytes from 300/mm3 to 1849/mm3, of which 88% had T cell marker. B lymphocytes did not bear any classes of surface immu...
متن کاملPurine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency.
Deficiency of erythrocytic and lymphocytic adenosine deaminase (ADA) occurs in some patients with severe combined immunodeficiency disease (SCID). SCID with ADA deficiency is inherited as an autosomal recessive trait. ADA is markedly reduced or undetectable in affected patients (homozygotes), and approximately one-half normal levels are found in individuals heterozygous for ADA deficiency. The ...
متن کاملIn vitro platelet abnormality in adenosine deaminase deficiency and severe combined immunodeficiency.
The platelets of an infant with severe combined immune deficiency and adenosine deaminase deficiency showed markedly diminished responses to ADP-induced aggregation in vitro. This abnormality was corrected by the addition of purified adenosine deaminase in vitro. Exogenous adenosine added to platelet-rich plasma caused markedly prolonged inhibition of ADP-induced aggregation. This was shown by ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1976
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197601000-00013