CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.

L D Notarangelo; M C Peitsch; T G Abrahamsen; C Bachelot; P Bordigoni; A J Cant; H Chapel; M Clementi; S Deacock; G de Saint Basile; M Duse; T Espanol; A Etzioni; A Fasth; A Fischer; S Giliani; L Gomez; L Hammarstorm; A Jones; M Kanariou; C Kinnon; T Klemola; R A Kroczek; J Levy; N Matamoros; V Monafo; P Paolucci; I Reznick; O Sanal; C I Smith; R A Thompson; P Tovo; A Villa; M Vihinen; J Vossen; B J Zegers

doi:10.1016/0167-5699(96)30059-5

Home/Archive/PubMed

PubMed · 8961627

CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.

View original source ↗Export metadata ↓

Abstract

X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations has now been established, and the resultant information, together with other mutations reported elsewhere in the literature, is presented here.

Explore related subjects

CD40 Antigens CD40 Ligand Databases, Factual Genetic Linkage Humans Hypergammaglobulinemia Immunoglobulin M Ligands Membrane Glycoproteins Mutation X Chromosome Journal Article Research Support, Non-U.S. Gov't

Keep this discovery

Explore connections, maps & timelines

BibTeX RIS

L D Notarangelo, M C Peitsch, T G Abrahamsen, C Bachelot, P Bordigoni, A J Cant, H Chapel, M Clementi, S Deacock, G de Saint Basile, M Duse, T Espanol, A Etzioni, A Fasth, A Fischer, S Giliani, L Gomez, L Hammarstorm, A Jones, M Kanariou, C Kinnon, T Klemola, R A Kroczek, J Levy, N Matamoros, V Monafo, P Paolucci, I Reznick, O Sanal, C I Smith, R A Thompson, P Tovo, A Villa, M Vihinen, J Vossen, B J Zegers. 1996. CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.. https://doi.org/10.1016/0167-5699(96)30059-5

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

Activation of human dendritic cells by p-phenylenediamine.

Exposure to p-phenylenediamine (pPD), a primary intermediate in hair dye formulations, is often associated with the development of allergic contact dermatitis. Such reactions involve activation of the subject's immune system. The aim of these studies was to explore the relationship between pPD oxidation and functional maturation of human monocyte-derived dendritic cells in vitro. Dendritic cells were incubated with pPD and Bandrowski's base (BB) for 16 h, and expression of the costimulatory receptors CD40, CD80, CD83, CD86, and major histocompatibility complex class II intracellular glutathione levels and cell viability were measured. In certain experiments, glutathione (1 mM) was added to culture medium. Liquid chromatography-mass spectrometry (LC-MS) analysis and exhaustive solvent extraction were used to monitor the rate of [(14)C]pPD oxidation and the extent of pPD binding to cellular and serum protein, respectively. Proliferation of allogeneic lymphocytes was determined by incorporation of [(3)H]thymidine. Exposure of dendritic cells to pPD (5-50 microM), but not BB, was associated with an increase in CD40 and MHC class II expression and proliferation of allogeneic lymphocytes. Dendritic cell activation with pPD was not associated with apoptotic or necrotic cell death or depletion of glutathione. Neither pPD nor BB altered dendritic cell expression of CD80, CD83, or CD86. LC-MS analysis revealed pPD was rapidly oxidized in cell culture media to BB. Addition of glutathione inhibited BB formation but did not prevent covalent binding of pPD to dendritic cell protein or dendritic cell activation. Collectively, these studies show that pPD, but not BB, selectively activates human dendritic cells in vitro.

CD40 Antigens↗

PubMed2006

Effect of 15d-PGJ2 on the expression of CD40 and RANTES induced by IFN-gamma and TNF-alpha on renal tubular epithelial cells (HK-2).

BACKGROUND/AIMS: Recent evidence shows that peroxisome proliferator-activated receptor-gamma (PPAR-gamma) ameliorates a variety of inflammatory conditions. CD40 is a co-stimulatory molecule and its ligation induces production of different proinflammatory cytokines including RANTES (regulated upon activation, normal T cell expressed), which are considered as important factors in the initiation and maintenance of inflammatory response. The aim of this study was to investigate the effect of PPAR-gamma on CD40 and RANTES production on cultured human renal proximal tubular epithelial (HK-2) cells. METHODS: HK-2 cells were maintained under defined in vitro conditions and treated with either PPAR-gamma agonist 15-deoxy-12,14-prostaglandin J2 (15d-PGJ2) or 15d-PGJ2 + PPAR-gamma antagonist GW9662, and then stimulated with a combination of tumor necrosis factor-alpha (TNF-alpha) and interferon-gamma (IFN-gamma). The CD40 and RANTES levels were investigated. RESULTS: HK-2 cells expressed low levels of CD40 and RANTES. Activation of HK-2 cells by combined treatment of TNF-alpha and IFN-gamma results in strong synergistic effects on the expression of CD40 and the secretion of RANTES. 15d-PGJ2 significantly decreased CD40 and RANTES expression and GW9662 partly abrogated the inhibition of 15d-PGJ2 on CD40 and RANTES. CONCLUSION: 15d-PGJ2 significantly decreased CD40 and RANTES expression in HK-2 cells, which were partially mediated by PPAR-gamma-dependent pathways. These results point to PPAR-gamma as a remarkable new target in the prevention of tubular inflammatory injury associated with renal disease.

CD40 Antigens↗

PubMed2006

Soluble CD40 ligand accumulates in stored blood components, primes neutrophils through CD40, and is a potential cofactor in the development of transfusion-related acute lung injury.

Transfusion-related acute lung injury (TRALI) is a form of posttransfusion acute pulmonary insufficiency that has been linked to the infusion of biologic response modifiers (BRMs), including antileukocyte antibodies and lipids. Soluble CD40 ligand (sCD40L) is a platelet-derived proinflammatory mediator that accumulates during platelet storage. We hypothesized that human polymorpho-nuclear leukocytes (PMNs) express CD40, CD40 ligation rapidly primes PMNs, and sCD40L induces PMN-mediated cytotoxicity of human pulmonary microvascular endothelial cells (HMVECs). Levels of sCD40L were measured in blood components and in platelet concentrates (PCs) implicated in TRALI or control PCs that did not elicit a transfusion reaction. All blood components contained higher levels of sCD40L than fresh plasma, with apheresis PCs evidencing the highest concentration of sCD40L followed by PCs from whole blood, whole blood, and packed red blood cells (PRBCs). PCs implicated in TRALI reactions contained significantly higher sCD40L levels than control PCs. PMNs express functional CD40 on the plasma membrane, and recombinant sCD40L (10 ng/mL-1 mug/mL) rapidly (5 minutes) primed the PMN oxidase. Soluble CD40L promoted PMN-mediated cytotoxicity of HMVECs as the second event in a 2-event in vitro model of TRALI. We concluded that sCD40L, which accumulates during blood component storage, has the capacity to activate adherent PMNs, causing endothelial damage and possibly TRALI in predisposed patients.

CD40 Antigens↗