Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand

Blood. 2011 Oct 6;118(14):3811-7. doi: 10.1182/blood-2011-04-351254. Epub 2011 Aug 12.

Abstract

X-linked hyper IgM syndrome (XHM) is a combined immune deficiency disorder caused by genetic alterations in CD40 ligand. The purpose of this study was to investigate the safety and efficacy of recombinant CD40 ligand (rCD40L) in the treatment of the disease. Three children were administered rCD40L subcutaneously 3 times per week at 0.03 mg/kg for 22 weeks, and after a 12-week drug-free interval, the dose was increased to 0.05 mg/kg for an additional 22 weeks of treatment. Although specific antibody responses to T cell-dependent antigens was lacking, administration of rCD40 resulted in acquisition of the capacity to mount cutaneous delayed type hypersensitivity reactions that disappeared during the drug-free interval as well as the postbiologic follow-up period. With rCD40L treatment, patient T cells developed a new capacity to respond to T-cell mitogens with synthesis of IFN-γ and TNF-α. Intracellular cytokine staining studies showed that both CD4(+) and CD8(+) T cells participated in this response. Finally, CD40L therapy was associated with changes in lymph node size and architecture based on comparison of biopsies taken before and after therapy. This clinical study showed that rCD40L is capable of improving T cell-immune function in patients with XHM.

Publication types

  • Clinical Trial
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Animals
  • CD40 Ligand / administration & dosage
  • CD40 Ligand / adverse effects
  • CD40 Ligand / immunology
  • CD40 Ligand / therapeutic use*
  • Child
  • Follow-Up Studies
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome, Type 1 / immunology*
  • Hyper-IgM Immunodeficiency Syndrome, Type 1 / pathology
  • Hyper-IgM Immunodeficiency Syndrome, Type 1 / therapy*
  • Immunotherapy
  • Interferon-gamma / immunology
  • Lymph Nodes / drug effects
  • Lymph Nodes / immunology
  • Lymph Nodes / pathology
  • Mice
  • Recombinant Proteins / administration & dosage
  • Recombinant Proteins / adverse effects
  • Recombinant Proteins / immunology
  • Recombinant Proteins / therapeutic use*
  • T-Lymphocytes / drug effects
  • T-Lymphocytes / immunology
  • T-Lymphocytes / pathology
  • Tumor Necrosis Factor-alpha / immunology

Substances

  • Recombinant Proteins
  • Tumor Necrosis Factor-alpha
  • CD40 Ligand
  • Interferon-gamma