Development of a Rapid Whole Blood Flow Cytometry Procedure for the Diagnosis of X-Linked Hyper-IgM Syndrome Patients and Carriers
The CD40 ligand expressed on activated T cells plays a pivotal role in B cell proliferation and differentiation. Mutations in the CD40 ligand gene, which alter its expression on the surface of activated T cells, are associated with the X-linked form of Hyper-IgM syndrome (XHIM). A rapid and simple,...
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| Veröffentlicht in: | Clinical immunology and immunopathology 1997-11, Vol.85 (2), p.172-181 |
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| container_title | Clinical immunology and immunopathology |
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| creator | O'Gorman, Maurice R.G. Zaas, David Paniagua, Mary Corrochano, Virginia Scholl, Paul R. Pachman, Lauren M. |
| description | The CD40 ligand expressed on activated T cells plays a pivotal role in B cell proliferation and differentiation. Mutations in the CD40 ligand gene, which alter its expression on the surface of activated T cells, are associated with the X-linked form of Hyper-IgM syndrome (XHIM). A rapid and simple, three-color whole blood flow cytometry procedure was developed for maximal expression and detection of the CD40L on the surface ofin vitroactivated CD4+ T cells. Approximately 90% ofin vitroactivated CD4+ T cells obtained from healthy controls expressed the CD40L compared to only 5% ofin vitroactivated CD4+ T cells obtained from the XHIM patients. The CD40L was expressed on approximately 50% of thein vitroactivated CD4+ T cells obtained from the mothers of XHIM patients, consistent with a diagnosis of their carrier status. This is the first report of a whole blood procedure adapted for routine clinical use which is able to detect abnormal CD40L expression in XHIM patients and carriers. |
| doi_str_mv | 10.1006/clin.1997.4422 |
| format | Article |
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Mutations in the CD40 ligand gene, which alter its expression on the surface of activated T cells, are associated with the X-linked form of Hyper-IgM syndrome (XHIM). A rapid and simple, three-color whole blood flow cytometry procedure was developed for maximal expression and detection of the CD40L on the surface ofin vitroactivated CD4+ T cells. Approximately 90% ofin vitroactivated CD4+ T cells obtained from healthy controls expressed the CD40L compared to only 5% ofin vitroactivated CD4+ T cells obtained from the XHIM patients. The CD40L was expressed on approximately 50% of thein vitroactivated CD4+ T cells obtained from the mothers of XHIM patients, consistent with a diagnosis of their carrier status. This is the first report of a whole blood procedure adapted for routine clinical use which is able to detect abnormal CD40L expression in XHIM patients and carriers.</description><identifier>ISSN: 0090-1229</identifier><identifier>EISSN: 1090-2341</identifier><identifier>DOI: 10.1006/clin.1997.4422</identifier><identifier>PMID: 9344700</identifier><identifier>CODEN: CLIIAT</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Adult ; Biological and medical sciences ; Carcinogens - pharmacology ; Carrier State - diagnosis ; CD3 Complex - analysis ; CD40 Antigens - biosynthesis ; CD40 Ligand ; Female ; Flow Cytometry ; Genetic Linkage ; Humans ; Hypergammaglobulinemia - diagnosis ; Hypergammaglobulinemia - genetics ; Immunodeficiencies. Immunoglobulinopathies ; Immunoglobulin M - blood ; Immunoglobulinopathies ; Immunopathology ; Ionomycin - pharmacology ; Ionophores - pharmacology ; Ligands ; Lymphocyte Activation ; Medical sciences ; Membrane Glycoproteins - biosynthesis ; Membrane Glycoproteins - blood ; Membrane Glycoproteins - physiology ; Syndrome ; T-Lymphocytes - immunology ; Tetradecanoylphorbol Acetate - pharmacology ; Up-Regulation ; X Chromosome - genetics</subject><ispartof>Clinical immunology and immunopathology, 1997-11, Vol.85 (2), p.172-181</ispartof><rights>1997 Academic Press</rights><rights>1998 INIST-CNRS</rights><rights>Copyright 1997 Academic Press.</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-173ca49f836e7979cee001bb47b26f2f64f55783f0372b06eda4256f1044e1a83</citedby><cites>FETCH-LOGICAL-c399t-173ca49f836e7979cee001bb47b26f2f64f55783f0372b06eda4256f1044e1a83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2066348$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9344700$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>O'Gorman, Maurice R.G.</creatorcontrib><creatorcontrib>Zaas, David</creatorcontrib><creatorcontrib>Paniagua, Mary</creatorcontrib><creatorcontrib>Corrochano, Virginia</creatorcontrib><creatorcontrib>Scholl, Paul R.</creatorcontrib><creatorcontrib>Pachman, Lauren M.</creatorcontrib><title>Development of a Rapid Whole Blood Flow Cytometry Procedure for the Diagnosis of X-Linked Hyper-IgM Syndrome Patients and Carriers</title><title>Clinical immunology and immunopathology</title><addtitle>Clin Immunol Immunopathol</addtitle><description>The CD40 ligand expressed on activated T cells plays a pivotal role in B cell proliferation and differentiation. Mutations in the CD40 ligand gene, which alter its expression on the surface of activated T cells, are associated with the X-linked form of Hyper-IgM syndrome (XHIM). A rapid and simple, three-color whole blood flow cytometry procedure was developed for maximal expression and detection of the CD40L on the surface ofin vitroactivated CD4+ T cells. Approximately 90% ofin vitroactivated CD4+ T cells obtained from healthy controls expressed the CD40L compared to only 5% ofin vitroactivated CD4+ T cells obtained from the XHIM patients. The CD40L was expressed on approximately 50% of thein vitroactivated CD4+ T cells obtained from the mothers of XHIM patients, consistent with a diagnosis of their carrier status. This is the first report of a whole blood procedure adapted for routine clinical use which is able to detect abnormal CD40L expression in XHIM patients and carriers.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Carcinogens - pharmacology</subject><subject>Carrier State - diagnosis</subject><subject>CD3 Complex - analysis</subject><subject>CD40 Antigens - biosynthesis</subject><subject>CD40 Ligand</subject><subject>Female</subject><subject>Flow Cytometry</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Hypergammaglobulinemia - diagnosis</subject><subject>Hypergammaglobulinemia - genetics</subject><subject>Immunodeficiencies. Immunoglobulinopathies</subject><subject>Immunoglobulin M - blood</subject><subject>Immunoglobulinopathies</subject><subject>Immunopathology</subject><subject>Ionomycin - pharmacology</subject><subject>Ionophores - pharmacology</subject><subject>Ligands</subject><subject>Lymphocyte Activation</subject><subject>Medical sciences</subject><subject>Membrane Glycoproteins - biosynthesis</subject><subject>Membrane Glycoproteins - blood</subject><subject>Membrane Glycoproteins - physiology</subject><subject>Syndrome</subject><subject>T-Lymphocytes - immunology</subject><subject>Tetradecanoylphorbol Acetate - pharmacology</subject><subject>Up-Regulation</subject><subject>X Chromosome - genetics</subject><issn>0090-1229</issn><issn>1090-2341</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1v1DAURS1EVYbClh2SF4hdpv6aeLyEKaWVBlFBK9hZjvPcGpw4tTNF2faX19GMumPlJ71zr58OQu8oWVJC6lMbfL-kSsmlEIy9QAtKFKkYF_QlWpB5poypV-h1zn9ICQgij9Gx4kJIQhbo8QweIMShg37E0WGDf5jBt_jXXQyAP4cYW3we4j-8mcbYwZgmfJWihXaXALuY8HgH-Myb2z5mn-eG39XW93-hxRfTAKm6vP2Gf059m0oaX5nRl48yNn2LNyYlDym_QUfOhAxvD-8Jujn_cr25qLbfv15uPm0ry5UaKyq5NUK5Na9BKqksACG0aYRsWO2Yq4VbreSaO8Ila0gNrRFsVTtKhABq1vwEfdz3Dine7yCPuvPZQgimh7jLmtZcCsppAZd70KaYcwKnh-Q7kyZNiZ6l61m6nqXrWXoJvD8075oO2mf8YLnsPxz2JlsTXDK99fkZY6SuuZgPXO8xKBYeihqdbdFVZPsEdtRt9P-74AmcdZ1i</recordid><startdate>19971101</startdate><enddate>19971101</enddate><creator>O'Gorman, Maurice R.G.</creator><creator>Zaas, David</creator><creator>Paniagua, Mary</creator><creator>Corrochano, Virginia</creator><creator>Scholl, Paul R.</creator><creator>Pachman, Lauren M.</creator><general>Elsevier Inc</general><general>Academic Press</general><scope>IQODW</scope><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>7T5</scope><scope>H94</scope></search><sort><creationdate>19971101</creationdate><title>Development of a Rapid Whole Blood Flow Cytometry Procedure for the Diagnosis of X-Linked Hyper-IgM Syndrome Patients and Carriers</title><author>O'Gorman, Maurice R.G. ; Zaas, David ; Paniagua, Mary ; Corrochano, Virginia ; Scholl, Paul R. ; Pachman, Lauren M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-173ca49f836e7979cee001bb47b26f2f64f55783f0372b06eda4256f1044e1a83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Carcinogens - pharmacology</topic><topic>Carrier State - diagnosis</topic><topic>CD3 Complex - analysis</topic><topic>CD40 Antigens - biosynthesis</topic><topic>CD40 Ligand</topic><topic>Female</topic><topic>Flow Cytometry</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>Hypergammaglobulinemia - diagnosis</topic><topic>Hypergammaglobulinemia - genetics</topic><topic>Immunodeficiencies. Immunoglobulinopathies</topic><topic>Immunoglobulin M - blood</topic><topic>Immunoglobulinopathies</topic><topic>Immunopathology</topic><topic>Ionomycin - pharmacology</topic><topic>Ionophores - pharmacology</topic><topic>Ligands</topic><topic>Lymphocyte Activation</topic><topic>Medical sciences</topic><topic>Membrane Glycoproteins - biosynthesis</topic><topic>Membrane Glycoproteins - blood</topic><topic>Membrane Glycoproteins - physiology</topic><topic>Syndrome</topic><topic>T-Lymphocytes - immunology</topic><topic>Tetradecanoylphorbol Acetate - pharmacology</topic><topic>Up-Regulation</topic><topic>X Chromosome - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>O'Gorman, Maurice R.G.</creatorcontrib><creatorcontrib>Zaas, David</creatorcontrib><creatorcontrib>Paniagua, Mary</creatorcontrib><creatorcontrib>Corrochano, Virginia</creatorcontrib><creatorcontrib>Scholl, Paul R.</creatorcontrib><creatorcontrib>Pachman, Lauren M.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>Clinical immunology and immunopathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>O'Gorman, Maurice R.G.</au><au>Zaas, David</au><au>Paniagua, Mary</au><au>Corrochano, Virginia</au><au>Scholl, Paul R.</au><au>Pachman, Lauren M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Development of a Rapid Whole Blood Flow Cytometry Procedure for the Diagnosis of X-Linked Hyper-IgM Syndrome Patients and Carriers</atitle><jtitle>Clinical immunology and immunopathology</jtitle><addtitle>Clin Immunol Immunopathol</addtitle><date>1997-11-01</date><risdate>1997</risdate><volume>85</volume><issue>2</issue><spage>172</spage><epage>181</epage><pages>172-181</pages><issn>0090-1229</issn><eissn>1090-2341</eissn><coden>CLIIAT</coden><abstract>The CD40 ligand expressed on activated T cells plays a pivotal role in B cell proliferation and differentiation. Mutations in the CD40 ligand gene, which alter its expression on the surface of activated T cells, are associated with the X-linked form of Hyper-IgM syndrome (XHIM). A rapid and simple, three-color whole blood flow cytometry procedure was developed for maximal expression and detection of the CD40L on the surface ofin vitroactivated CD4+ T cells. Approximately 90% ofin vitroactivated CD4+ T cells obtained from healthy controls expressed the CD40L compared to only 5% ofin vitroactivated CD4+ T cells obtained from the XHIM patients. The CD40L was expressed on approximately 50% of thein vitroactivated CD4+ T cells obtained from the mothers of XHIM patients, consistent with a diagnosis of their carrier status. 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| subjects | Adult Biological and medical sciences Carcinogens - pharmacology Carrier State - diagnosis CD3 Complex - analysis CD40 Antigens - biosynthesis CD40 Ligand Female Flow Cytometry Genetic Linkage Humans Hypergammaglobulinemia - diagnosis Hypergammaglobulinemia - genetics Immunodeficiencies. Immunoglobulinopathies Immunoglobulin M - blood Immunoglobulinopathies Immunopathology Ionomycin - pharmacology Ionophores - pharmacology Ligands Lymphocyte Activation Medical sciences Membrane Glycoproteins - biosynthesis Membrane Glycoproteins - blood Membrane Glycoproteins - physiology Syndrome T-Lymphocytes - immunology Tetradecanoylphorbol Acetate - pharmacology Up-Regulation X Chromosome - genetics |
| title | Development of a Rapid Whole Blood Flow Cytometry Procedure for the Diagnosis of X-Linked Hyper-IgM Syndrome Patients and Carriers |
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