Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features
- 17 January 2005
- journal article
- review article
- Published by Wiley in Immunological Reviews
- Vol. 203 (1), 48-66
- https://doi.org/10.1111/j.0105-2896.2005.00229.x
Abstract
CD40 is a member of the tumor necrosis factor receptor family, which is expressed by a variety of cells including B cells, macrophages, dendritic cells, and other nonimmune cell types. CD40 activation is critical for B-cell proliferation, immunoglobulin (Ig)-isotype switching, and germinal center formation. In physiological conditions, the activation of CD40 occurs by binding to its natural ligand, CD154, which is expressed on activated T cells. The in vivo critical role of CD40-CD154 interaction on B-cell differentiation and isotype switching is provided by the discovery that mutations in either CD40 or CD154 gene cause the hyper IgM syndrome, termed HIGM3 or HIGM1, respectively, characterized by very low levels of serum IgG, IgA, and IgE, with normal or elevated IgM, associated with a defective germinal center formation. Originally considered humoral primary immunodeficiencies, the clinical features and the defect of T-cell priming, resulting from a defective T-B cell or dendritic cell interaction, is now considered as combined immunodeficiencies. In this article, we present a comprehensive overview of the clinical, genetic, and immunological features of patients with hyper IgM syndrome due to CD40 mutations.Keywords
This publication has 150 references indexed in Scilit:
- Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experienceAmerican Journal of Hematology, 2004
- CD40 Signaling through a Newly Identified Tumor Necrosis Factor Receptor-associated Factor 2 (TRAF2) Binding SitePublished by Elsevier BV ,2003
- Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002Blood, 2003
- B cell subpopulations separated by CD27 and crucial collaboration of CD27+ B cells and helper T cells in immunoglobulin productionEuropean Journal of Immunology, 1997
- The many roles of CD40 in cell-mediated inflammatory responsesImmunology Today, 1996
- Human CD40‐ligand: molecular cloning, cellular distribution and regulation of expression by factors controlling IgE productionFEBS Letters, 1993
- Developmental and regional expression of three new members of theras-gene family in the mouse brainJournal of Neuroscience Research, 1989
- Developmental and regional regulation ofrab3: A new brain specific ?ras-like? geneJournal of Neuroscience Research, 1989
- Evidence for a Defect in Switch T Cells in Patients with Immunodeficiency and Hyperimmunoglobulinemia MThe New England Journal of Medicine, 1986
- Antibody deficiency syndrome associated with beta-2 macroglobulinemiaThe Journal of Pediatrics, 1962