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Hans D. Ochs - One of the best experts on this subject based on the ideXlab platform.

  • X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis
    Journal of clinical immunology, 2016
    Co-Authors: Joel L. Gallagher, Hans D. Ochs, Juan Adams, Mary Hintermeyer, Troy R. Torgerson, Jesus M. Lopez-guisa, Sara Szabo, Mina Salib, James W. Verbsky, John M. Routes
    Abstract:

    Purpose X-linked Hyper IgM Syndrome (XHIgM) is a combined immunodeficiency caused by mutations in the CD40 ligand (CD40L) gene that typically results in decreased or absent CD40L expression on activated T cells, leading to defective class switching and somatic Hypermutation. We describe an infant who presented with respiratory failure due to pulmonary alveolar proteinosis (PAP) with a novel damaging missense mutation in the CD40L gene.

  • Hyper IgM Syndrome: a Report from the USIDNET Registry
    Journal of clinical immunology, 2016
    Co-Authors: Emily Leven, Hans D. Ochs, Ramsay L. Fuleihan, Rebecca H. Buckley, Patrick Maffucci, Paul Scholl, Raif S. Geha, Coleen K. Cunningham, Francisco A. Bonilla, Mary Ellen Conley
    Abstract:

    Purpose The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIgM).

  • Parvovirus B19-Induced Anemia as the Presenting Manifestation of X-Linked Hyper-IgM Syndrome
    Journal of Infectious Diseases, 2012
    Co-Authors: Kohei Seyama, J. C. Rutledge, D. Rosen, R. Kobayashi, Andrea J. Apter, Henrik Hasle, Hans D. Ochs
    Abstract:

    Parvovirus B19 (B19) can cause chronic anemia due to persistent infection in immunocompromised hosts who cannot produce neutralizing antibody necessary for clearing B19. Three patients with X-linked Hyper-IgM Syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the CD40L gene, including a missense mutation (T254M), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309+2t-->a). Antibody responses to the T cell-dependent antigen, bacteriophage phiX174, were impaired, but neutralizing antibody titers were higher than in XHIM patients with classic phenotype. All 3 patients responded to intravenous immune globulin (IVIG) treatment. Certain mutations of the CD40L gene result in a mild XHIM phenotype that may become apparent following B19 infection in patients not on IVIG therapy and therefore not protected from B19 infection.

  • Immunologic reconstitution following bone marrow transplantation for X-linked Hyper IgM Syndrome.
    Clinical immunology (Orlando Fla.), 2001
    Co-Authors: John E. Duplantier, Hans D. Ochs, Kuniaki Seyama, Noorbibi K. Day, Remi Hitchcock, Robert P. Nelson, Soichi Haraguchi, Martin R. Klemperer, Robert A. Good
    Abstract:

    X-linked Hyper IgM Syndrome (XHIM), caused by mutations of the CD40 ligand (CD40L) gene, is characterized by recurrent bacterial and opportunistic infections, an increased incidence of autoimmunity and malignancies, and immunodeficiency due to abnormal T/B cell interaction. Because of poor long-term prognosis, bone marrow transplantation (BMT) has been proposed as an alternative treatment. An 8-month-old boy with XHIM and a splice site mutation of CD40L underwent BMT using a fully matched sibling donor. Markers of engraftment and immunologic reconstitution were measured serially. After BMT, activated T cells expressed functional CD40L, and genomic DNA obtained from circulating white cells contained predominantly wild-type CD40L sequences. Serum immunoglobulin levels including IgE and antibody responses to recall antigens normalized, and immunization with the T-cell-dependent neoantigen, bacteriophage φX174, demonstrated amplification of the response and isotope switching. BMT provides a permanent cure for XHIM if a fully matched sibling donor is available and the procedure is performed before complications have occurred.

  • Enteroviral meningoencephalitis as a complication of X-linked Hyper IgM Syndrome.
    The Journal of pediatrics, 1999
    Co-Authors: Coleen K. Cunningham, Hans D. Ochs, Cynthia A. Bonville, Kuniaki Seyama, Patricia A. John, Harley A. Rotbart, Leonard B. Weiner
    Abstract:

    Abstract We describe 5 children from 2 families with mutations in the CD40 ligand (CD40L) gene leading to absent expression of CD40L on activated CD4 cells. All subjects presented with interstitial pneumonia with low serum IgG and normal serum IgM. One child had normal and one child had elevated serum IgA. Four had confirmed Pneumocystis carinii pneumonia. In spite of intravenous immunoglobulin treatment yielding therapeutic serum immunoglobulin levels, 3 children had enteroviral encephalitis. When assessed by flow cytometry, the 3 surviving affected male children had absent CD40L expression on activated CD4 + T cells. The affected children from both families were shown to have the same single nucleotide insertion (codon 131) resulting in frameshift and early termination within exon 4 (extracellular domain). This observation demonstrates that persistent enteroviral infection is not only observed in X-linked agammaglobulinemia but may also occur in patients with X-linked Hyper IgM Syndrome. (J Pediatr 1999;134:584-8)

John M. Routes - One of the best experts on this subject based on the ideXlab platform.

  • X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis
    Journal of clinical immunology, 2016
    Co-Authors: Joel L. Gallagher, Hans D. Ochs, Juan Adams, Mary Hintermeyer, Troy R. Torgerson, Jesus M. Lopez-guisa, Sara Szabo, Mina Salib, James W. Verbsky, John M. Routes
    Abstract:

    Purpose X-linked Hyper IgM Syndrome (XHIgM) is a combined immunodeficiency caused by mutations in the CD40 ligand (CD40L) gene that typically results in decreased or absent CD40L expression on activated T cells, leading to defective class switching and somatic Hypermutation. We describe an infant who presented with respiratory failure due to pulmonary alveolar proteinosis (PAP) with a novel damaging missense mutation in the CD40L gene.

Shigeaki Nonoyama - One of the best experts on this subject based on the ideXlab platform.

  • A Severe Anaphylactic Reaction Associated with IgM-Class Anti-Human IgG Antibodies in a Hyper-IgM Syndrome Type 2 Patient
    Journal of clinical immunology, 2017
    Co-Authors: Yuki Tsujita, Kohsuke Imai, Kenichi Honma, Chikako Kamae, Takahiko Horiuchi, Shigeaki Nonoyama
    Abstract:

    Purpose A 42-year-old man with Hyper-IgM Syndrome type 2 caused by activation-induced cytidine deaminase (AID) deficiency developed a severe anaphylactic reaction to intravenous immunoglobulin. The purpose of this study was to clarify the cause of the anaphylactic reaction of the patient.

  • Allogeneic hematopoietic stem cell transplantation for seven children with X-linked Hyper-IgM Syndrome: a single center experience.
    American journal of hematology, 2004
    Co-Authors: Daisuke Tomizawa, Shigeaki Nonoyama, Yoshiyuki Minegishi, Kohsuke Imai, Sukeyuki Ito, Michiko Kajiwara, Masayuki Nagasawa, Tomohiro Morio, Shuki Mizutani
    Abstract:

    X-linked Hyper-IgM Syndrome (XHIM), or Hyper-IgM Syndrome type 1 (HIgM1), is a rare primary immunodeficiency disorder susceptible to recurrent bacterial infection and opportunistic infection such as Pneumocystis carinii and Cryptosporidium parvum. The long-term outcome is quite poor, and allogeneic hematopoietic stem cell transplantation (HSCT) offers the only cure. Seven patients with XHIM, from age 3 to 19 years (mean 11.3 years), underwent allogeneic HSCT in our institution. Details of pre- and post-transplantation data and transplantation procedure were analyzed retrospectively. The donors were HLA-identical siblings for three patients and HLA-identical unrelated donors for four patients. All but one received conventional conditioning regimen consisting of busulfan and cyclophosphamide and prophylaxis for graft-versus-host disease (GVHD) consisting of cyclosporine and methotrexate. Five out of seven patients are alive and well with normal CD40L expression, and four of these five are free of intravenous immunoglobulin supplementation. The two patients who died had prolonged episodes of severe and recurrent infections and organ damage. We conclude that conventional allogeneic HSCT from HLA matched related or unrelated donors is curative and feasible for XHIM patients, if performed before significant infections and organ damage occur. For the high-risk patients, an alternative approach including nonmyeloablative HSCT may be more feasible. Am. J. Hematol. 76:33–39, 2004. © 2004 Wiley-Liss, Inc.

  • Type two Hyper-IgM Syndrome caused by mutation in activation-induced cytidine deaminase.
    Journal of medical and dental sciences, 2003
    Co-Authors: Yi Zhu, Shigeaki Nonoyama, Tomohiro Morio, Masamichi Muramatsu, Tasuku Honjo, Shuki Mizutani
    Abstract:

    Thirteen Japanese patients with Hyper-IgM Syndrome but normal CD40 ligand were characterized. All patients had mutations in AID (activationinduced cytidine deaminase) gene. Five of them had a missense mutation of Arg112His. In all patients, serum IgG, IgA and IgE levels were undetectable, B cells failed to produce detectable amounts of IgE even if cultured them with antiCD40 and IL-4. Somatic Hypermutation (SHM) was also impaired in their peripheral blood B cells. These results suggest that Arg112 is the hot spot of AID mutation and demonstrate that AID plays indispensable roles in class switch recombination (CSR) and somatic Hypermutation (SHM) in human B cells. In addition, serum IgM levels in the patients have been continuously high even after proper intravenous immunogloburin infusion (IVIG) and without infection, indicate that AID has the function to induce spontaneous IgM production in B cells.

  • Hyper-IgM Syndrome with systemic tuberculosis.
    Scandinavian journal of infectious diseases, 2002
    Co-Authors: Isao Ito, Tadashi Ishida, Toru Hashimoto, Machiko Arita, Makoto Osawa, Michiaki Mishima, Shigeaki Nonoyama
    Abstract:

    A 33-y-old man with Hyper-IgM Syndrome developed a severe tuberculous disease complicated by pleuritis and spondylitis. An abnormally decreased CD4/CD8 ratio, decreased CD4 + T-cell count and depressed natural killer cell activity implicated a coexistent cell-mediated immunodeficiency. To our knowledge, this is the first detailed report of tuberculosis associated with Hyper-IgM Syndrome.

  • Neutropenia in patient with X-linked Hyper-IgM Syndrome
    [Rinsho ketsueki] The Japanese journal of clinical hematology, 1995
    Co-Authors: M Iwata, Shigeaki Nonoyama, Hiroyuki Nunoi, M Shimadzu, Shigenori Higuchi, Yanabe Y, M Migita, Adachi N, I Matsuda
    Abstract:

    The X-linked form of Hyper-IgM Syndrome (HIgM1) is a rare disorder characterized by the inability of B cells to undergo isotype switch by a deficiency of CD40 ligand (CD40L) on activated T lymphocytes. The patients suffer from recurrent infections not only due to a lack of B lymphocyte activation but also due to defect of T lymphocyte functions. In addition, neutropenia is frequently accompanied by these symptoms. A patient with HIgM1, we experienced, suffered from recurrent infections and neutropenia. But he had a normal number of hematopoietic stem cell by the in vitro colony forming assay. CD34+ myeloid stem cell has been known to express CD40. We speculated by these facts that myeloid cell numbers are regulated by CD40-CD40L interaction.

H Lackner - One of the best experts on this subject based on the ideXlab platform.

  • fatal evans Syndrome after matched unrelated donor transplantation for Hyper IgM Syndrome
    European Journal of Haematology, 2004
    Co-Authors: Christan Urban, Martin Benesch, Petra Sovinz, Wolfgang Schwinger, H Lackner
    Abstract:

    A 3 and 1/2-yr-old boy underwent matched unrelated stem cell transplantation (SCT) for Hyper-IgM Syndrome. He developed acute and chronic skin graft-vs.-host disease (GVHD). Ten months following SCT he presented with severe hemolytic anemia and thrombocytopenia (Evans' Syndrome). Treatment included high-dose steroids, intravenous immunoglobulins, cyclosporine, mycophenolate mofetil, chemotherapeutic agents (cyclophosphamide, vincristine, VP-16), immunoadsorption, and anti-CD20 and anti-CD52 monoclonal antibodies without response. The patient died 16 months after SCT.

  • Fatal Evans’ Syndrome after matched unrelated donor transplantation for Hyper‐IgM Syndrome
    European journal of haematology, 2004
    Co-Authors: Christan Urban, Martin Benesch, Petra Sovinz, Wolfgang Schwinger, H Lackner
    Abstract:

    A 3 and 1/2-yr-old boy underwent matched unrelated stem cell transplantation (SCT) for Hyper-IgM Syndrome. He developed acute and chronic skin graft-vs.-host disease (GVHD). Ten months following SCT he presented with severe hemolytic anemia and thrombocytopenia (Evans' Syndrome). Treatment included high-dose steroids, intravenous immunoglobulins, cyclosporine, mycophenolate mofetil, chemotherapeutic agents (cyclophosphamide, vincristine, VP-16), immunoadsorption, and anti-CD20 and anti-CD52 monoclonal antibodies without response. The patient died 16 months after SCT.

Martin Benesch - One of the best experts on this subject based on the ideXlab platform.