Publications associées à Déficit immunitaire primitif

Study of backward Brillouin scattering in gas-filled anti-resonant fibers

Luc Thévenaz, Malak Mohamed Hossameldeen Omar Mohamed Galal, Li Zhang

Brillouin scattering in gas shows unmatched gain properties in hollow-core optical fibers filled at high pressure. Here, the gain characteristics are studied for two common gases, namely, N2 and CO2, which show distinct features and are compared to expecte ...

2023

How to: Diagnose inborn errors of intrinsic and innate immunity to viral, bacterial, mycobacterial, and fungal infections

Alessandro Borghesi

Background: Inborn errors of intrinsic and innate immunity constitute the focus of a growing research field that investigates the molecular mechanisms underlying susceptibility to infections previously not considered part of the spectrum of inborn errors o ...

ELSEVIER SCI LTD2022

SPICA: Swiss portal for immune cell analysis

Christian Iseli, Nicolas Jean Philippe Guex

Single-cell transcriptomics allows the study of immune cell heterogeneity at an unprecedented level of resolution. The Swiss portal for immune cell analysis (SPICA) is a web resource dedicated to the exploration and analysis of single-cell RNA-seq data of ...

OXFORD UNIV PRESS2022

Host genomics of SARS-CoV-2 infection

Jacques Fellay, Christian Axel Wandall Thorball

SARS-CoV-2 infected a large fraction of humans in the past 2 years. The clinical presentation of acute infection varies greatly between individuals, ranging from asymptomatic or mild to life-threatening COVID-19 pneumonia with multi-organ complications. De ...

SPRINGERNATURE2022

Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder

Dylan Lawless, Beibei Wu

CRAC channel regulator 2 A (CRACR2A) is a large Rab GTPase that is expressed abundantly in T cells and acts as a signal transmitter between T cell receptor stimulation and activation of the Ca2+-NFAT and JNK-AP1 pathways. CRACR2A has been linked to human d ...

eLIFE SCIENCES PUBL LTD2021

Quantum Sensing of Free Radicals in Primary Human Dendritic Cells

Mayeul Sylvain Chipaux

Free radicals are crucial indicators for stress and appear in all kinds of pathogenic conditions, including cancer, cardiovascular diseases, and infection. However, they are difficult to detect due to their reactivity and low abundance. We use relaxometry ...

AMER CHEMICAL SOC2022

Predicting the Occurrence of Variants in RAG1 and RAG2

Jacques Fellay, Flavia Aurelia Shoko Hodel, Dylan Lawless

While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an inability to predict clinically ...

2019

Synergy and remarkable specificity of antimicrobial peptides in vivo using a systematic knockout approach

Bruno Lemaitre, Camilla Carla Alma Ceroni, Mark Austin Hanson, Anna Dostalova

Antimicrobial peptides (AMPs) are host-encoded antibiotics that combat invading microorganisms. These short, cationic peptides have been implicated in many biological processes, primarily involving innate immunity. In vitro studies have shown AMPs kill bac ...

Cambridge University Press2019

Intestinal helminths modulate the gut microbiome

Alexis Rapin

Intestinal parasitic worms (commonly named intestinal helminths) affect close to one quarter of the world population and cause major losses for the livestock industry. These parasites establish chronic infections by modulation the immunity of their host. T ...

EPFL2018

Neonatal Group B Streptococcal Disease in Otherwise Healthy Infants: Failure of Specific Neonatal Immune Responses

Jacques Fellay, Alessandro Borghesi

Only a small proportion of newborn infants exposed to a pathogenic microorganism develop overt infection. Susceptibility to infection in preterm infants and infants with known comorbidities has a likely multifactorial origin and can be often attributed to ...

Frontiers Media Sa2017

Long-Term Engraftment of Primary Bone Marrow Stromal Cells Repairs Niche Damage and Improves Hematopoietic Stem Cell Transplantation

Jörg Hülsken, Zuzana Tatárová

Hematopoietic stem cell (HSC) transplantation represents a curative treatment for various hematological disorders. However, delayed reconstitution of innate and adaptive immunity often causes fatal complications. HSC maintenance and lineage differentiation ...

Cell Press2017

Severe viral respiratory infections in children with IFIH1 loss-of-function mutations

Jacques Fellay, Amalio Telenti, Istvan Bartha, Christian Hammer, Samira Asgari, Thomas Junier, Paul Jack Mc Laren

Viral respiratory infections are usually mild and self-limiting; still they exceptionally result in life-threatening infections in previously healthy children. To investigate a potential genetic cause, we recruited 120 previously healthy children requiring ...

Natl Acad Sciences2017

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

Microfluidic co-culture platform to quantify chemotaxis of primary stem cells

Jörg Hülsken, Zuzana Tatárová

Functional analysis of primary tissue-specific stem cells is hampered by their rarity. Here we describe a greatly miniaturized microfluidic device for the multiplexed, quantitative analysis of the chemotactic properties of primary, bone marrow-derived mese ...

Royal Soc Chemistry2016

Biomechanical forces promote blood development through prostaglandin E2 and the cAMP-PKA signaling axis

Olaia Maria Naveiras Torres-Quiroga, Nan Li

Blood flow promotes emergence of definitive hematopoietic stem cells (HSCs) in the developing embryo, yet the signals generated by hemodynamic forces that influence hematopoietic potential remain poorly defined. Here we show that fluid shear stress endows ...

2015

Microbiota-Induced Changes in Drosophila melanogaster Host Gene Expression and Gut Morphology

Bruno Lemaitre, Nichole Broderick

To elucidate mechanisms underlying the complex relationships between a host and its microbiota, we used the genetically tractable model Drosophila melanogaster. Consistent with previous studies, the microbiota was simple in composition and diversity. Howev ...

American Society for Microbiology2014

MicroRNA 21 is a novel oncogene in Notch1-driven acute lymphoblastic T cell leukemia

Fabian Junker

Notch signaling is a conserved cell-to-cell communication pathway essential in the development and maintenance of various tissues. Upon ligand binding, Notch receptors on the cell surface are proteolytically cleaved, generating the intracellular domain of ...

EPFL2014

TLR4- and TRIF-dependent stimulation of B lymphocytes by peptide liposomes enables T cell-independent isotype switch in mice

Pedro Miguel Nunes Pereira de Almeida Reis, Andrea Pfeifer, Marija Vukicevic, Andreas Muhs, Valérie Gafner, Anna Lucia Buccarello

Immunoglobulin class switching from IgM to IgG in response to peptides is generally T cell-dependent and vaccination in T cell-deficient individuals is inefficient. We show that a vaccine consisting of a dense array of peptides on liposomes induced peptide ...

Amer Soc Hematology2013

Design optimization of an ironless inductive position sensor for the LHC collimators

Yves Perriard, Alessandro Danisi, Alessandro Masi

The Ironless Inductive Position Sensor (I2PS) is an air-cored displacement sensor which has been conceived to be totally immune to external DC/slowly-varying magnetic fields. It can thus be used as a valid alternative to Linear Variable Differential Transf ...

2013

Highly controlled electrofusion of individually selected cells in dielectrophoretic field cages

Claus Duschl

The prospect of novel therapeutic approaches has renewed the current interest in the fusion of rare cells, like stem cells or primary immune cells. While conventional techniques are only capable of mass fusion, lab-on-a-chip systems often still lack an acc ...

2012