Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.
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منابع مشابه
Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.
In most instances, marked deficiency of the purine catabolic enzyme adenosine deaminase results in lymphopenia and severe combined immunodeficiency disease. Over a 2-yr period, we studied a white male child with markedly deficient erythrocyte and lymphocyte adenosine deaminase activity and normal immune function. We have documented that (a) adenosine deaminase activity and immunoreactive protei...
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An in vivo murine model for immunodeficiency of both B and T cells is produced by continuous intraperitoneal infusion of 2'-deoxycoformycin (DCF), a specific tightly binding inhibitor of adenosine deaminase (ADase; adenosine aminohydrolase, EC 3.5.4.4). After DCF infusion, ADase of thymus, spleen, and lymph nodes was inhibited to varying degrees ranging from 57% to 100%. Immunodeficiency under ...
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Keywords Disease name and synonyms AMP deaminase AMP deaminase deficiency Diagnosis criteria-definition Differential diagnosis Prevalence Clinical description Management Etiology Diagnostic methods Unresolved questions References Abstract There are two types of adenosine monophosphate deaminase deficiency. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism ...
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Background Adenosine deaminase (ADA) deficiency is a disorder where the accumulation of purine metabolites, which are particularly toxic to lymphocytes, can lead to severe, life threatening infections. In addition, ADA deficiency also affects other tissues. Few reports describe the presence of neutropenia in these patients, primarily in older patients after hematopoietic stem cell transplantati...
متن کاملT lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase.
Adenosine deaminase (ADA) deficiency causes severe combined immune deficiency (SCID) by interfering with the metabolism of deoxyadenosine, which is toxic to T lymphocytes at all stages of differentiation. Enzyme replacement with polyethylene glycol-modified ADA (PEG-ADA) has been previously shown to correct deoxyadenosine metabolism and improve mitogen-induced T lymphocyte proliferation. We stu...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1983
ISSN: 0021-9738
DOI: 10.1172/jci110996