Purine Nucleoside Phosphorylase Deficiency: Improved Metabolic and Immunologic Function with Erythrocyte Transfusions
DEFICIENCY of the purine enzyme nucleoside phosphorylase is associated with a severe T-lymphocyte immune deficiency. 1 2 3 4 5 6 The abnormality in the immune system results from the accumulation of purine metabolites that inhibit lymphocyte function. 7 8 9 10 11 Correction of T-lymphocyte deficienc...
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| Veröffentlicht in: | The New England journal of medicine 1980-10, Vol.303 (17), p.973-977 |
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| container_title | The New England journal of medicine |
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| creator | Rich, Kenneth C Mejias, Edwin Fox, Irving H |
| description | DEFICIENCY of the purine enzyme nucleoside phosphorylase is associated with a severe T-lymphocyte immune deficiency.
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The abnormality in the immune system results from the accumulation of purine metabolites that inhibit lymphocyte function.
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8
9
10
11
Correction of T-lymphocyte deficiencies by stem-cell transplantation is limited by the availability of suitable donors, but treatment of the metabolic disorder by enzyme-replacement therapy may provide a useful alternative.
Transfusion therapy is effective for about half the patients with severe combined immunodeficiency associated with adenosine deaminase deficiency.
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In nucleoside phosphorylase deficiency transfusion therapy has been reported to produce partial improvement or no improvement in immune function.
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In this . . . |
| doi_str_mv | 10.1056/NEJM198010233031705 |
| format | Article |
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1
2
3
4
5
6
The abnormality in the immune system results from the accumulation of purine metabolites that inhibit lymphocyte function.
7
8
9
10
11
Correction of T-lymphocyte deficiencies by stem-cell transplantation is limited by the availability of suitable donors, but treatment of the metabolic disorder by enzyme-replacement therapy may provide a useful alternative.
Transfusion therapy is effective for about half the patients with severe combined immunodeficiency associated with adenosine deaminase deficiency.
12
13
14
In nucleoside phosphorylase deficiency transfusion therapy has been reported to produce partial improvement or no improvement in immune function.
4
,
15
16
17
In this . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM198010233031705</identifier><identifier>PMID: 6774252</identifier><language>eng</language><publisher>United States: Massachusetts Medical Society</publisher><subject>Anemia ; Blood & organ donations ; Blood Transfusion - methods ; Case reports ; Child ; Children & youth ; Enzymes ; Erythrocyte Transfusion ; Erythrocytes - enzymology ; Humans ; Immunology ; Leukocyte Count ; Lymphocyte Activation ; Lymphocytes ; Lymphocytes T ; Male ; Metabolic disorders ; Metabolism ; Metabolites ; Nucleosides - urine ; Pentosyltransferases - deficiency ; Phosphorylase ; Purine-Nucleoside Phosphorylase - blood ; Purine-Nucleoside Phosphorylase - deficiency ; Skin Tests ; T-Lymphocytes - immunology ; Uric acid ; Uric Acid - blood ; Uric Acid - urine</subject><ispartof>The New England journal of medicine, 1980-10, Vol.303 (17), p.973-977</ispartof><rights>Copyright Massachusetts Medical Society Oct 23, 1980</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c279t-fef1289ceb9a497682b1fa9575a9922a306cfe3d6d152242986b6e320d11145b3</citedby><cites>FETCH-LOGICAL-c279t-fef1289ceb9a497682b1fa9575a9922a306cfe3d6d152242986b6e320d11145b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/1869580248?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6774252$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rich, Kenneth C</creatorcontrib><creatorcontrib>Mejias, Edwin</creatorcontrib><creatorcontrib>Fox, Irving H</creatorcontrib><title>Purine Nucleoside Phosphorylase Deficiency: Improved Metabolic and Immunologic Function with Erythrocyte Transfusions</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>DEFICIENCY of the purine enzyme nucleoside phosphorylase is associated with a severe T-lymphocyte immune deficiency.
1
2
3
4
5
6
The abnormality in the immune system results from the accumulation of purine metabolites that inhibit lymphocyte function.
7
8
9
10
11
Correction of T-lymphocyte deficiencies by stem-cell transplantation is limited by the availability of suitable donors, but treatment of the metabolic disorder by enzyme-replacement therapy may provide a useful alternative.
Transfusion therapy is effective for about half the patients with severe combined immunodeficiency associated with adenosine deaminase deficiency.
12
13
14
In nucleoside phosphorylase deficiency transfusion therapy has been reported to produce partial improvement or no improvement in immune function.
4
,
15
16
17
In this . . .</description><subject>Anemia</subject><subject>Blood & organ donations</subject><subject>Blood Transfusion - methods</subject><subject>Case reports</subject><subject>Child</subject><subject>Children & youth</subject><subject>Enzymes</subject><subject>Erythrocyte Transfusion</subject><subject>Erythrocytes - enzymology</subject><subject>Humans</subject><subject>Immunology</subject><subject>Leukocyte Count</subject><subject>Lymphocyte Activation</subject><subject>Lymphocytes</subject><subject>Lymphocytes T</subject><subject>Male</subject><subject>Metabolic disorders</subject><subject>Metabolism</subject><subject>Metabolites</subject><subject>Nucleosides - urine</subject><subject>Pentosyltransferases - deficiency</subject><subject>Phosphorylase</subject><subject>Purine-Nucleoside Phosphorylase - blood</subject><subject>Purine-Nucleoside Phosphorylase - deficiency</subject><subject>Skin Tests</subject><subject>T-Lymphocytes - immunology</subject><subject>Uric acid</subject><subject>Uric Acid - blood</subject><subject>Uric Acid - urine</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1980</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp9kU-LFDEQxYMo67j6CUQICF6kNf878SbrrK7srntYz006Xe1k6E7GpKP0tzcygwcR61JUvV89Ch5Czyl5Q4lUb2-3n2-o0YQSxjnhtCXyAdpQyXkjBFEP0YYQphvRGv4YPcl5T2pRYc7QmWpbwSTboHJXkg-Ab4ubIGY_AL7bxXzYxbRONgP-AKN3HoJb3-Gr-ZDiDxjwDSy2j5N32IahrucS4hS_1fmyBLf4GPBPv-zwNq3LLkW3LoDvkw15LLmK-Sl6NNopw7NTP0dfL7f3F5-a6y8fry7eXzeOtWZpRhgp08ZBb6wwrdKsp6M1spXWGMYsJ8qNwAc1UMmYYEarXgFnZKCUCtnzc_Tq6Fv__l4gL93ss4NpsgFiyV0rmdBC6gq-_Avcx5JC_a2jWhmpSQUrxY-USzHnBGN3SH62ae0o6X5H0v0jknr14uRd-hmGPzenDKr--qjPc-4C7Of_uv0CR4CT2g</recordid><startdate>19801023</startdate><enddate>19801023</enddate><creator>Rich, Kenneth C</creator><creator>Mejias, Edwin</creator><creator>Fox, Irving H</creator><general>Massachusetts Medical Society</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>19801023</creationdate><title>Purine Nucleoside Phosphorylase Deficiency: Improved Metabolic and Immunologic Function with Erythrocyte Transfusions</title><author>Rich, Kenneth C ; Mejias, Edwin ; Fox, Irving H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c279t-fef1289ceb9a497682b1fa9575a9922a306cfe3d6d152242986b6e320d11145b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1980</creationdate><topic>Anemia</topic><topic>Blood & organ donations</topic><topic>Blood Transfusion - methods</topic><topic>Case reports</topic><topic>Child</topic><topic>Children & youth</topic><topic>Enzymes</topic><topic>Erythrocyte Transfusion</topic><topic>Erythrocytes - enzymology</topic><topic>Humans</topic><topic>Immunology</topic><topic>Leukocyte Count</topic><topic>Lymphocyte Activation</topic><topic>Lymphocytes</topic><topic>Lymphocytes T</topic><topic>Male</topic><topic>Metabolic disorders</topic><topic>Metabolism</topic><topic>Metabolites</topic><topic>Nucleosides - urine</topic><topic>Pentosyltransferases - deficiency</topic><topic>Phosphorylase</topic><topic>Purine-Nucleoside Phosphorylase - blood</topic><topic>Purine-Nucleoside Phosphorylase - deficiency</topic><topic>Skin Tests</topic><topic>T-Lymphocytes - immunology</topic><topic>Uric acid</topic><topic>Uric Acid - blood</topic><topic>Uric Acid - urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rich, Kenneth C</creatorcontrib><creatorcontrib>Mejias, Edwin</creatorcontrib><creatorcontrib>Fox, Irving H</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Pharma and Biotech Premium PRO</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>New England Journal of Medicine</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rich, Kenneth C</au><au>Mejias, Edwin</au><au>Fox, Irving H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Purine Nucleoside Phosphorylase Deficiency: Improved Metabolic and Immunologic Function with Erythrocyte Transfusions</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>1980-10-23</date><risdate>1980</risdate><volume>303</volume><issue>17</issue><spage>973</spage><epage>977</epage><pages>973-977</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><abstract>DEFICIENCY of the purine enzyme nucleoside phosphorylase is associated with a severe T-lymphocyte immune deficiency.
1
2
3
4
5
6
The abnormality in the immune system results from the accumulation of purine metabolites that inhibit lymphocyte function.
7
8
9
10
11
Correction of T-lymphocyte deficiencies by stem-cell transplantation is limited by the availability of suitable donors, but treatment of the metabolic disorder by enzyme-replacement therapy may provide a useful alternative.
Transfusion therapy is effective for about half the patients with severe combined immunodeficiency associated with adenosine deaminase deficiency.
12
13
14
In nucleoside phosphorylase deficiency transfusion therapy has been reported to produce partial improvement or no improvement in immune function.
4
,
15
16
17
In this . . .</abstract><cop>United States</cop><pub>Massachusetts Medical Society</pub><pmid>6774252</pmid><doi>10.1056/NEJM198010233031705</doi><tpages>5</tpages></addata></record> |
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| ispartof | The New England journal of medicine, 1980-10, Vol.303 (17), p.973-977 |
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| language | eng |
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| source | MEDLINE; ProQuest Central UK/Ireland |
| subjects | Anemia Blood & organ donations Blood Transfusion - methods Case reports Child Children & youth Enzymes Erythrocyte Transfusion Erythrocytes - enzymology Humans Immunology Leukocyte Count Lymphocyte Activation Lymphocytes Lymphocytes T Male Metabolic disorders Metabolism Metabolites Nucleosides - urine Pentosyltransferases - deficiency Phosphorylase Purine-Nucleoside Phosphorylase - blood Purine-Nucleoside Phosphorylase - deficiency Skin Tests T-Lymphocytes - immunology Uric acid Uric Acid - blood Uric Acid - urine |
| title | Purine Nucleoside Phosphorylase Deficiency: Improved Metabolic and Immunologic Function with Erythrocyte Transfusions |
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