E. Vosse

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IFN-R 1 defects : mutation update and description of the IFNGR 1 variation database

J. T. Dissel, E. Vosse, 2017 .

Susceptibility to leprosy is associated with PARK2 and PACRG

T. Hudson, A. Montpetit, A. Verner, 2004, Nature.

Chapter 7 INfLueNCe Of POLymOrPhIsms IN INNate ImmuNIty GeNes ON susCePtIBILIty tO INVasIVe asPerGILLOsIs after stem CeLL traNsPLaNtatION

J. Falkenburg, D. Kremer, J. T. Dissel, 2011 .

Presentation of Interleukin-12/-23 Receptor β1 Deficiency with Various Clinical Symptoms of Salmonella Infections

T. Ottenhoff, O. Sanal, I. Tezcan, 2006, Journal of Clinical Immunology.

Erratum to: Intact IFN-γR1 Expression and Function Distinguishes Langerhans Cell Histiocytosis From Mendelian Susceptibility to Mycobacterial Disease

R. Egeler, E. Dompeling, Susy Santos, 2014, Journal of Clinical Immunology.

Severe Mycobacterium bovis BCG infections in a large series of novel IL–12 receptor β1 deficient patients and evidence for the existence of partial IL–12 receptor β1 deficiency

O. Sanal, I. Tezcan, F. Ersoy, 2003, European journal of immunology.

An Xp22.1-p22.2 VAC contig encompassing the disease loci for RS, KFSD, CLS, HVP and RP15; refined localization of RS and KFSD.

J. Weissenbach, S. Gregory, J. Oosterwijk, 2014 .

Salmonella Induced IL-23 and IL-1β Allow for IL-12 Production by Monocytes and Mφ1 through Induction of IFN-γ in CD56+ NK/NK-Like T Cells

J. T. Dissel, E. Vosse, D. Wetering, 2009 .

IL-23 modulates CD56+/CD3− NK Cell and CD56+/CD3+ NK-like T Cell function differentially from IL-12

J. T. Dissel, E. Vosse, D. Wetering, 2009 .

Transduction of Herpesvirus saimiri‐Transformed T Cells with Exogenous Genes of Interest

J. Casanova, B. Fleckenstein, J. Markle, 2016, Current protocols in immunology.

Targets of anticytokine therapy and the risk of infections in humans and mice.

M. Agtmael, E. Vosse, 2007 .

Molecular complementation of IL-12Rβ1 deficiency reveals functional differences between IL-12Rβ1 alleles including partial IL-12Rβ1 deficiency

T. Ottenhoff, J. T. Dissel, E. Vosse, 2005 .

Functional analysis of naturally occurring amino acid substitutions in human IFN-γR1

J. T. Dissel, E. Vosse, D. Wetering, 2010 .

Correlating Interleukin-12 Stimulated Interferon-γ Production and the Absence of Ectodermal Dysplasia and Anhidrosis (EDA) in Patients with Mutations in NF-κB Essential Modulator (NEMO)

S. Holland, Ashish Jain, E. Vosse, 2014, Journal of Clinical Immunology.

Interleukin-12 family signaling

E. Vosse, C. Dueñas, 2017 .

IL‐12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

J. Casanova, I. Tezcan, M. Martínez-Gallo, 2013, Human mutation.

Positional Cloning in Xp 22 : towards the isolation of the gene involved in X-linked retinoschisis

W. Wagenaar, R. Pavitt, J. T. Dunnen, 2014 .

High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes

G. V. Ommen, J. T. Dunnen, E. Vosse, 1997, Mammalian Genome.

Common variants at 11p13 are associated with susceptibility to tuberculosis

M. Newport, G. Sirugo, F. Vannberg, 2012, Nature Genetics.

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

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

R. Xavier, S. Smeekens, M. Oosting, 2014, European Journal of Clinical Microbiology & Infectious Diseases.

A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation

D. Roos, J. T. Dissel, E. Vosse, 2009, Journal of Human Genetics.

A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans

R. Xavier, S. Smeekens, M. Jaeger, 2016, Cell.

Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations

J. Todd, H. Stevens, S. Nejentsev, 2008, Nature Genetics.

An Xp22.1–p22.2 YAC Contig Encompassing the Disease Loci for RS, KFSD, CLS, HYP and RP15: Refined Localization of RS

J. Weissenbach, S. Gregory, J. T. Dunnen, 1996, European journal of human genetics : EJHG.

Genetic variations in the interleukin-12/interleukin-23 receptor (β1) chain, and implications for IL-12 and IL-23 receptor structure and function

T. Ottenhoff, J. T. Dissel, E. Vosse, 2003, Immunogenetics.

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

J. T. Dissel, E. Vosse, R. Paus, 2011, Genes and Immunity.

van de Vosse et al. Antisense-mediated exon skipping to correct IL-12Rβ1 deficiency in T cells.

G. Platenburg, J. V. Deutekom, J. T. Dissel, 2009 .

Intact IFN-γR1 Expression and Function Distinguishes Langerhans Cell Histiocytosis From Mendelian Susceptibility to Mycobacterial Disease

R. Egeler, E. Dompeling, Susy Santos, 2013, Journal of Clinical Immunology.

Erratum to: Intact IFN-γR1 Expression and Function Distinguishes Langerhans Cell Histiocytosis From Mendelian Susceptibility to Mycobacterial Disease

R. Egeler, E. Dompeling, Susy Santos, 2014, Journal of Clinical Immunology.

Primary immunodeficiency leading to mycobacterial disease

E. Vosse, 2015 .

Impaired cytokine responses in patients with cryopyrin‐associated periodic syndrome (CAPS)

S. Holland, R. Goldbach-Mansky, E. Vosse, 2014, Clinical and experimental immunology.

Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation

M. Ligtenberg, N. Hoogerbrugge, E. Vosse, 2015, Familial Cancer.

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin.

E. Rugarli, A. Ballabio, J. T. Dunnen, 1997, Human molecular genetics.

Toll-like receptor 1 polymorphisms increase susceptibility to candidemia.

M. Oosting, L. Joosten, M. Netea, 2012, The Journal of infectious diseases.

IL-23 and IL-12 responses in activated human T cells retrovirally transduced with IL-23 receptor variants.

E. van de Vosse, J. T. Dissel, E. Vosse, 2008, Molecular immunology.

A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation.

C. Ruivenkamp, M. Losekoot, J. Wit, 2012, European journal of endocrinology.

PARK2/PACRG polymorphisms and susceptibility to typhoid and paratyphoid fever

J. V. van Dissel, A. Vollaard, Soegianto Ali, 2006, Clinical and experimental immunology.

Involvement of matrix metalloproteinases in chronic Q fever.

L. Joosten, M. Netea, J. Mege, 2017, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

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

G. van Ommen, L. Sandkuijl, J. Oosterwijk, 1997, Human Genetics.

Impaired cytokine responses in patients with cryopyrin‐associated periodic syndrome (CAPS)

R. Goldbach-Mansky, E. Vosse, M. Haverkamp, 2014, Clinical and Experimental Immunology.

Cytokine gene polymorphisms and the outcome of invasive candidiasis: a prospective cohort study.

M. Oosting, L. Joosten, M. Netea, 2012, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Intact interferon-γ response against Coxiella burnetii by peripheral blood mononuclear cells in chronic Q fever.

M. Netea, J. Mege, J. V. D. van der Meer, 2017, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

Plasma granulysin levels and cellular interferon-gamma production correlate with curative host responses in tuberculosis, while plasma interferon-gamma levels correlate with tuberculosis disease activity in adults.

B. Alisjahbana, T. Ottenhoff, T. de Boer, 2007, Tuberculosis.

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

J. Oosterwijk, E. van de Vosse, E. Vosse, 1995, Journal of medical genetics.

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

A. Rosenthal, M. Platzer, R. Roepman, 1996, Human molecular genetics.

van de Vosse et al. Antisense-mediated exon skipping to correct IL-12Rβ1 deficiency in T cells.

G. Platenburg, J. V. Deutekom, J. T. Dissel, 2009 .

Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product.

J. D. den Dunnen, J. D. Dunnen, N. Datson, 1996, Nucleic Acids Research.

Involvement of matrix metalloproteinases in chronic Q fever.

L. Joosten, J. Mege, M. Deuren, 2017, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.