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