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  1. No Access

    Article

    Autophagy is redundant for the host defense against systemic Candida albicans infections

    Autophagy has been demonstrated to play an important role in the immunity against intracellular pathogens, but very little is known about its role in the host defense against fungal pathogens such as Candida albi...

    S. P. Smeekens, R. K. Malireddi… in European Journal of Clinical Microbiology … (2014)

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    Article

    Effect of amino acid substitutions in the human IFN-γR2 on IFN-γ responsiveness

    Patients with interferon-γ receptor (IFN-γR) null mutations have severe infections with poorly pathogenic Mycobacteria. The IFN-γR complex involves two IFN-γR1 and two IFN-γR2 chains, in which several amino acid ...

    R A de Paus, S S Kilic, J T van Dissel, E van de Vosse in Genes & Immunity (2011)

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    Article

    Mycobacterium bovis BCG-itis and Cervical Lymphadenitis due to Salmonella enteritidis in a Patient with Complete Interleukin-12/-23 Receptor β1 Deficiency

    Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder with predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent, non-tuberculous environmental mycobacte...

    E. van de Vosse, T. H. M. Ottenhoff, R. A. de Paus, E. M. Verhard, T. de Boer… in Infection (2010)

  4. Article

    Toll like receptor 1 polymorphisms and susceptibility to invasive candidiasis

    T Plantinga, M Johnsson, B Scott, E van de Vosse, D Velez… in Critical Care (2009)

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    Article

    Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

    X-linked juvenile retinoschisis (RS) is a progressive vitreoretinal degeneration localised in Xp22.1-p22.2. A human homologue of the retinal degeneration gene C (rdgC), a gene that in Drosophila melanogaster pre...

    E. van de Vosse, Brunella Franco, P. van der Bent, Eugenio Montini… in Human Genetics (1997)

  6. No Access

    Article

    Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

    X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting both skin and eyes. In the two extended KFSD families analysed to date, the gene was mapped to Xp22.13–p22.2. By analyzin...

    J. C. Oosterwijk, Gabriela Richard, Michiel J. R. van der Wielen… in Human Genetics (1997)