Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation
X-linked hyper-IgM (X-HIM) syndrome is a primary immunodeficiency disease characterized by defects in both cellular and humoral immunity. X-HIM is caused by mutations in the gene for CD40 ligand (CD40L), a T cell membrane protein that mediates T cell-dependent immune functions. We report the case of...
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| Veröffentlicht in: | Bone marrow transplantation (Basingstoke) 1998-12, Vol.22 (12), p.1215-1218 |
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| container_title | Bone marrow transplantation (Basingstoke) |
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| creator | SCHOLL, P. R O'GORMAN, M. R. G PACHMAN, L. M HAUT, P KLETZEL, M |
| description | X-linked hyper-IgM (X-HIM) syndrome is a primary immunodeficiency disease characterized by defects in both cellular and humoral immunity. X-HIM is caused by mutations in the gene for CD40 ligand (CD40L), a T cell membrane protein that mediates T cell-dependent immune functions. We report the case of a 6-year-old male with X-HIM due to an intronic mutation resulting in aberrant CD40L RNA splicing and absence of detectable CD40L protein. The patient had a history of multiple infectious complications and chronic neutropenia requiring treatment with recombinant granulocyte colony-stimulating factor, and underwent allogeneic bone marrow transplantation from an HLA-matched sibling donor. Following successful engraftment, T cell CD40L expression and immunoglobulin isotype switching were reconstituted and neutropenia resolved. Allogeneic bone marrow transplantation can correct neutropenia and reconstitute immune function in X-HIM. |
| doi_str_mv | 10.1038/sj.bmt.1701512 |
| format | Article |
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R ; O'GORMAN, M. R. G ; PACHMAN, L. M ; HAUT, P ; KLETZEL, M</creator><creatorcontrib>SCHOLL, P. R ; O'GORMAN, M. R. G ; PACHMAN, L. M ; HAUT, P ; KLETZEL, M</creatorcontrib><description>X-linked hyper-IgM (X-HIM) syndrome is a primary immunodeficiency disease characterized by defects in both cellular and humoral immunity. X-HIM is caused by mutations in the gene for CD40 ligand (CD40L), a T cell membrane protein that mediates T cell-dependent immune functions. We report the case of a 6-year-old male with X-HIM due to an intronic mutation resulting in aberrant CD40L RNA splicing and absence of detectable CD40L protein. The patient had a history of multiple infectious complications and chronic neutropenia requiring treatment with recombinant granulocyte colony-stimulating factor, and underwent allogeneic bone marrow transplantation from an HLA-matched sibling donor. Following successful engraftment, T cell CD40L expression and immunoglobulin isotype switching were reconstituted and neutropenia resolved. Allogeneic bone marrow transplantation can correct neutropenia and reconstitute immune function in X-HIM.</description><identifier>ISSN: 0268-3369</identifier><identifier>EISSN: 1476-5365</identifier><identifier>DOI: 10.1038/sj.bmt.1701512</identifier><identifier>PMID: 9894727</identifier><identifier>CODEN: BMTRE9</identifier><language>eng</language><publisher>Basingstoke: Nature Publishing Group</publisher><subject>Agammaglobulinemia - genetics ; Agammaglobulinemia - immunology ; Agammaglobulinemia - therapy ; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy ; Biological and medical sciences ; Bone marrow ; Bone Marrow Transplantation ; Bone marrow, stem cells transplantation. Graft versus host reaction ; CD40 antigen ; CD40 Ligand ; CD40L protein ; Cell membranes ; Child ; Colony-stimulating factor ; Complications ; Granulocyte colony-stimulating factor ; Histocompatibility antigen HLA ; Humans ; Humoral immunity ; Hypogammaglobulinemia ; Immune response ; Immunodeficiency ; Immunoglobulin M ; Immunoglobulin M - immunology ; Job's syndrome ; Leukocytes (granulocytic) ; Lymphocytes ; Lymphocytes T ; Male ; Medical sciences ; Membrane Glycoproteins - genetics ; Membrane Glycoproteins - immunology ; Membrane proteins ; Mutation ; Neutropenia ; Neutropenia - immunology ; Neutropenia - therapy ; Primary immunodeficiencies ; Proteins ; Stem cell transplantation ; Transfusions. Complications. Transfusion reactions. 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R</creatorcontrib><creatorcontrib>O'GORMAN, M. R. G</creatorcontrib><creatorcontrib>PACHMAN, L. M</creatorcontrib><creatorcontrib>HAUT, P</creatorcontrib><creatorcontrib>KLETZEL, M</creatorcontrib><title>Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation</title><title>Bone marrow transplantation (Basingstoke)</title><addtitle>Bone Marrow Transplant</addtitle><description>X-linked hyper-IgM (X-HIM) syndrome is a primary immunodeficiency disease characterized by defects in both cellular and humoral immunity. X-HIM is caused by mutations in the gene for CD40 ligand (CD40L), a T cell membrane protein that mediates T cell-dependent immune functions. We report the case of a 6-year-old male with X-HIM due to an intronic mutation resulting in aberrant CD40L RNA splicing and absence of detectable CD40L protein. The patient had a history of multiple infectious complications and chronic neutropenia requiring treatment with recombinant granulocyte colony-stimulating factor, and underwent allogeneic bone marrow transplantation from an HLA-matched sibling donor. Following successful engraftment, T cell CD40L expression and immunoglobulin isotype switching were reconstituted and neutropenia resolved. Allogeneic bone marrow transplantation can correct neutropenia and reconstitute immune function in X-HIM.</description><subject>Agammaglobulinemia - genetics</subject><subject>Agammaglobulinemia - immunology</subject><subject>Agammaglobulinemia - therapy</subject><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</subject><subject>Biological and medical sciences</subject><subject>Bone marrow</subject><subject>Bone Marrow Transplantation</subject><subject>Bone marrow, stem cells transplantation. Graft versus host reaction</subject><subject>CD40 antigen</subject><subject>CD40 Ligand</subject><subject>CD40L protein</subject><subject>Cell membranes</subject><subject>Child</subject><subject>Colony-stimulating factor</subject><subject>Complications</subject><subject>Granulocyte colony-stimulating factor</subject><subject>Histocompatibility antigen HLA</subject><subject>Humans</subject><subject>Humoral immunity</subject><subject>Hypogammaglobulinemia</subject><subject>Immune response</subject><subject>Immunodeficiency</subject><subject>Immunoglobulin M</subject><subject>Immunoglobulin M - immunology</subject><subject>Job's syndrome</subject><subject>Leukocytes (granulocytic)</subject><subject>Lymphocytes</subject><subject>Lymphocytes T</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Glycoproteins - genetics</subject><subject>Membrane Glycoproteins - immunology</subject><subject>Membrane proteins</subject><subject>Mutation</subject><subject>Neutropenia</subject><subject>Neutropenia - immunology</subject><subject>Neutropenia - therapy</subject><subject>Primary immunodeficiencies</subject><subject>Proteins</subject><subject>Stem cell transplantation</subject><subject>Transfusions. Complications. Transfusion reactions. Cell and gene therapy</subject><subject>Transplantation</subject><subject>Transplantation, Homologous</subject><subject>X Chromosome</subject><issn>0268-3369</issn><issn>1476-5365</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkc2L1TAUxYMo45vRrTshoLjrM1_Nx1IeozMw4kbBXUiT22efbVKTFnngH2_GKQquQji_nJx7D0IvKNlTwvXbctp307KnitCWskdoR4WSTctl-xjtCJO64Vyap-iylBMhVAjSXqALo41QTO3Qr0PKGfwypIhTjyOsS04zxMFhFwP-dp7T0U2TO46pW8chwlSVIeKvTb18hz8E5Ob2-BGXcww5TYC7M3bjmI4QYfC4SxHw5HJOP_GSXSzz6OLi7n98hp70bizwfDuv0Jf3158PN83dpw-3h3d3jedaLY3kQXrHNOEdZQGC6tugiJCBdMJQQ3qnnTGtUIpoDga80YIxHgwwxwIx_Aq9efCdc_qxQlnsNBQPYw0CaS1WGiq0UG0FX_0HntKaY81mmRSMUqO1rtT-gfI5lZKht3Me6oRnS4m9L8WWk62l2K2U-uDlZrt2E4S_-NZC1V9vuivejX3dkh_KP1fJOCGM_wY-ypcT</recordid><startdate>19981201</startdate><enddate>19981201</enddate><creator>SCHOLL, P. R</creator><creator>O'GORMAN, M. R. 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Graft versus host reaction</topic><topic>CD40 antigen</topic><topic>CD40 Ligand</topic><topic>CD40L protein</topic><topic>Cell membranes</topic><topic>Child</topic><topic>Colony-stimulating factor</topic><topic>Complications</topic><topic>Granulocyte colony-stimulating factor</topic><topic>Histocompatibility antigen HLA</topic><topic>Humans</topic><topic>Humoral immunity</topic><topic>Hypogammaglobulinemia</topic><topic>Immune response</topic><topic>Immunodeficiency</topic><topic>Immunoglobulin M</topic><topic>Immunoglobulin M - immunology</topic><topic>Job's syndrome</topic><topic>Leukocytes (granulocytic)</topic><topic>Lymphocytes</topic><topic>Lymphocytes T</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Glycoproteins - genetics</topic><topic>Membrane Glycoproteins - immunology</topic><topic>Membrane proteins</topic><topic>Mutation</topic><topic>Neutropenia</topic><topic>Neutropenia - immunology</topic><topic>Neutropenia - therapy</topic><topic>Primary immunodeficiencies</topic><topic>Proteins</topic><topic>Stem cell transplantation</topic><topic>Transfusions. Complications. Transfusion reactions. Cell and gene therapy</topic><topic>Transplantation</topic><topic>Transplantation, Homologous</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SCHOLL, P. R</creatorcontrib><creatorcontrib>O'GORMAN, M. R. G</creatorcontrib><creatorcontrib>PACHMAN, L. 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R</au><au>O'GORMAN, M. R. G</au><au>PACHMAN, L. M</au><au>HAUT, P</au><au>KLETZEL, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation</atitle><jtitle>Bone marrow transplantation (Basingstoke)</jtitle><addtitle>Bone Marrow Transplant</addtitle><date>1998-12-01</date><risdate>1998</risdate><volume>22</volume><issue>12</issue><spage>1215</spage><epage>1218</epage><pages>1215-1218</pages><issn>0268-3369</issn><eissn>1476-5365</eissn><coden>BMTRE9</coden><abstract>X-linked hyper-IgM (X-HIM) syndrome is a primary immunodeficiency disease characterized by defects in both cellular and humoral immunity. X-HIM is caused by mutations in the gene for CD40 ligand (CD40L), a T cell membrane protein that mediates T cell-dependent immune functions. We report the case of a 6-year-old male with X-HIM due to an intronic mutation resulting in aberrant CD40L RNA splicing and absence of detectable CD40L protein. The patient had a history of multiple infectious complications and chronic neutropenia requiring treatment with recombinant granulocyte colony-stimulating factor, and underwent allogeneic bone marrow transplantation from an HLA-matched sibling donor. Following successful engraftment, T cell CD40L expression and immunoglobulin isotype switching were reconstituted and neutropenia resolved. Allogeneic bone marrow transplantation can correct neutropenia and reconstitute immune function in X-HIM.</abstract><cop>Basingstoke</cop><pub>Nature Publishing Group</pub><pmid>9894727</pmid><doi>10.1038/sj.bmt.1701512</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Bone marrow transplantation (Basingstoke), 1998-12, Vol.22 (12), p.1215-1218 |
| issn | 0268-3369 1476-5365 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Nature Journals Online; SpringerLink Journals - AutoHoldings |
| subjects | Agammaglobulinemia - genetics Agammaglobulinemia - immunology Agammaglobulinemia - therapy Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Biological and medical sciences Bone marrow Bone Marrow Transplantation Bone marrow, stem cells transplantation. Graft versus host reaction CD40 antigen CD40 Ligand CD40L protein Cell membranes Child Colony-stimulating factor Complications Granulocyte colony-stimulating factor Histocompatibility antigen HLA Humans Humoral immunity Hypogammaglobulinemia Immune response Immunodeficiency Immunoglobulin M Immunoglobulin M - immunology Job's syndrome Leukocytes (granulocytic) Lymphocytes Lymphocytes T Male Medical sciences Membrane Glycoproteins - genetics Membrane Glycoproteins - immunology Membrane proteins Mutation Neutropenia Neutropenia - immunology Neutropenia - therapy Primary immunodeficiencies Proteins Stem cell transplantation Transfusions. Complications. Transfusion reactions. Cell and gene therapy Transplantation Transplantation, Homologous X Chromosome |
| title | Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation |
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