Déficit immunitaire combiné sévère

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Publications associées (30)

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

Françoise Gisou van der Goot Grunberg, Béatrice Kunz, Laurence Gouzi Abrami, Julie Deuquet Ariosa, Alessandra Piersigilli, Jérôme Bürgi

Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and ...

Springer Nature2017

Single particle maximum likelihood reconstruction from superresolution microscopy images

Suliana Manley, Julia Gunzenhäuser

Point localization superresolution microscopy enables fluorescently tagged molecules to be imaged beyond the optical diffraction limit, reaching single molecule localization precisions down to a few nanometers. For small objects whose sizes are few times t ...

2017

Evaluating the Impact of Functional Genetic Variation on HIV-1 Control

Jacques Fellay, Istvan Bartha, Paul Jack Mc Laren

Previous genetic association studies of human immunodeficiency virus-1 (HIV-1) progression have focused on common human genetic variation ascertained through genome-wide genotyping. ...

Oxford Univ Press Inc2017

HLA-B*14:02-Restricted Env-Specific CD8+ T-Cell Activity Has Highly Potent Antiviral Efficacy Associated with Immune Control of HIV Infection

Jacques Fellay

Immune control of human immunodeficiency virus type 1 (HIV) infection is typically associated with effective Gag-specific CD8+ T-cell responses. We here focus on HLA-B14, which protects against HIV disease progression, but the immunodominant HLA-B14-rest ...

American Society for Microbiology2017

Characterizing human cytomegalovirus reinfection in congenitally infected infants: an evolutionary perspective

Jeffrey David Jensen, Kristen Kay Irwin, Cornelia Pokalyuk, Susanne Petra Pfeifer

Given the strong selective pressures often faced by populations when colonizing a novel habitat, the level of variation present on which selection may act is an important indicator of adaptive potential. While often discussed in an ecological context, this ...

Wiley2017

Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis

Jacques Fellay, Istvan Bartha, Samira Asgari, Christoph Berger, Paul Jack Mc Laren, Richard Wong

One out of three pediatric sepsis deaths in high income countries occur in previously healthy children. Primary immunodeficiencies (PIDs) have been postulated to underlie fulminant sepsis, but this concept remains to be confirmed in clinical practice. Pseu ...

Frontiers Media Sa2016

The Interplay Between Host Genetic Variation, Viral Replication, and Microbial Translocation in Untreated HIV-Infected Individuals

Jacques Fellay, Amalio Telenti, Istvan Bartha

Systemic immune activation, a major determinant of human immunodeficiency virus (HIV) disease progression, is the result of a complex interplay between viral replication, dysregulation of the immune system, and microbial translocation due to gut mucosal da ...

Oxford University Press2015

The impact of host genetic variation on infection with HIV-1

Paul Jack Mc Laren

The outcome after infection with the human immunodeficiency virus type 1 (HIV-1) is a complex phenotype determined by interactions among the pathogen, the human host and the surrounding environment. An impact of host genetic variation on HIV-1 susceptibili ...

Nature Publishing Group2015

Polymeric Anti-HIV Therapeutics

Harm-Anton Klok, Maarten Danial

The scope of this review is to highlight the application of polymer therapeutics in an effort to curb the transmission and infection of the human immunodeficiency virus (HIV). Following a description of the HIV life cycle, the use of approved antiretrovira ...

Wiley-Blackwell2015

Infection Dynamics and Immune Response in a Newly Described Drosophila-Trypanosomatid Association

Bruno Lemaitre, Anna Dostalova

Trypanosomatid parasites are significant causes of human disease and are ubiquitous in insects. Despite the importance of Drosophila melanogaster as a model of infection and immunity and a long awareness that trypanosomatid infection is common in the genus ...

American Society for Microbiology2015

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