Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation.

Immunoglobulin superfamily (IgSF) domains are conserved structures present in many proteins in eukaryotes and prokaryotes. These domains are well-capable of facilitating sequence variation, which is most clearly illustrated by the variable regions in immunoglobulins (Igs) and T cell receptors (TRs). We studied an antibody-deficient patient suffering from recurrent respiratory infections and with impaired antibody responses to vaccinations. Patient's B cells showed impaired Ca(2+) influx upon stimulation with anti-IgM and lacked detectable CD19 membrane expression. CD19 sequence analysis revealed a homozygous missense mutation resulting in a tryptophan to cystein (W52C) amino acid change. The affected tryptophan is CONSERVED-TRP 41 located on the C-strand of the first extracellular IgSF domain of CD19 and was found to be highly conserved, not only in mammalian CD19 proteins, but in nearly all characterized IgSF domains. Furthermore, the tryptophan is present in all variable domains in Ig and TR and was not mutated in 117 Ig class-switched transcripts of B cells from controls, despite an overall 10% amino acid change frequency. In vitro complementation studies and CD19 western blotting of patient's B cells demonstrated that the mutated protein remained immaturely glycosylated. This first missense mutation resulting in a CD19 deficiency demonstrates the crucial role of a highly conserved tryptophan in proper folding or stability of IgSF domains.

An unusual case of severe combined immunodeficiency with hypereosinophilia

SCOPUS: ar.j

Rôle de la molécule CD81 dans le fonctionnement des lymphocytes B chez l'homme.

News

Antibody-deficiency and Acute Nephritic Syndrome in a Patient with Homozygous Disruption of the CD81 Gene

info:eu-repo/semantics/nonPublished

Antibody-deficiency and Acute Nephritic Syndrome in a Patient with Homozygous Disruption of the CD81 Gene

info:eu-repo/semantics/nonPublished

CD19-Complex deficiencies :a newly emerging homogeneous antibody deficiency

info:eu-repo/semantics/nonPublished

Evaluation de DI-fusion: Le dépôt officiel de l'ULB

info:eu-repo/semantics/published

Twentieth Century Society Spring lecture series: second lives for Twentieth Century masterpieces

The Twentieth Century Society’s Spring lecture series (six in total) looks at the restoration and refurbishment of key C20 buildings in Britain and the US. Buildings covered: BBC Broadcasting House in London (G Val Meyer 1930-32, MacCormac Jamieson Prichard 2000-09). Speaker: Mark Hines (Mark Hines Architects), was the project architect and is the author of The Story of Broadcasting House: Home of the BBC. 5 February 2009. Crown Hall, Chicago (Mies van der Rohe 1952), the Art and Architecture Building, Yale University, New Haven (Paul Rudolf 1961-63) and the former Wills head office in Bristol (SOM with YRM 1970-75). Speaker: Patrick Bellew (Atelier 10 Engineers), 12 February 2009. Center for British Art, Yale University, New Haven (Louis Kahn 1969-77). Speaker: Peter Inskip (Inskip and Jenkins Architects), 17 February 2009. Brunswick Centre London (Patrick Hodgkinson 1967-72; Levitt Bernstein with Patrick Hodgkinson 2006). Speaker: Stuart Tappin (Stand Consulting Engineers Ltd), 26 February 2009. De La Warr Pavilion, Bexhill-on-Sea (Mendelsohn and Chermayeff 1934-5, John McAslan and Partners 2000-05). Speaker: Mark Cannata (HOK Architects), 5 March 2009. Finsbury Health Centre London (Lubetkin & Tecton 1938, first phase of conservation work Avanti Architects 1995.). Speaker: John Allan of Avanti Architects, 12 March 2009.

Pesten op de basisschool

Mooij, T. (2010). Pesten op de basisschool. In R. Loeber, W. Slot, P. van der Laan, M. Hoeve, & D. Graas (Eds.), Misdadigers van morgen? Over de ontwikkeling en effectieve aanpak van jeugddelinquentie onder twaalfminners (pp. 101-108). Amsterdam: SWP.

RAGE Architecture for Reusable Serious Gaming Technology Components

For seizing the potential of serious games, the RAGE project - funded by the Horizon-2020 Programme of the European Commission - will make available an interoperable set of advanced technology components (software assets) that support game studios at serious game development. This paper describes the overall software architecture and design conditions that are needed for the easy integration and reuse of such software assets in existing game platforms. Based on the component-based software engineering paradigm the RAGE architecture takes into account the portability of assets to different operating systems, different programming languages and different game engines. It avoids dependencies on external software frameworks and minimizes code that may hinder integration with game engine code. Furthermore it relies on a limited set of standard software patterns and well-established coding practices. The RAGE architecture has been successfully validated by implementing and testing basic software assets in four major programming languages (C#, C++, Java and Typescript/JavaScript, respectively). A demonstrator implementation of asset integration with an existing game engine was created and validated. The presented RAGE architecture paves the way for large scale development and application of cross-engine reusable software assets for enhancing the quality and diversity of serious gaming.