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Concept

Severe combined immunodeficiency

Related publications (30)

Leukocyte Count and Coronary Artery Disease Events in People With Human Immunodeficiency Virus: A Longitudinal Study

Jacques Fellay, Christian Axel Wandall Thorball

Leukocyte count is associated with coronary artery disease (CAD) events in the general population. Here we show that leukocytes are independently associated with CAD events in people with HIV in Switzerland, after adjusting for traditional and HIVrelated r ...

OXFORD UNIV PRESS INC2023

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

Invasive Streptococcal Infection Can Lead to the Generation of Cross-Strain Opsonic Antibodies

Hamed Khakzad

The bacterium Streptococcus pyogenes is a common cause of both mild and severe human diseases resulting in substantial morbidity and mortality each year. No vaccines are available, and our understanding of the antibody response to this human pathogen is st ...

AMER SOC MICROBIOLOGY2022

Mechanical Immunoengineering of T Cells for Enhanced Cancer Immunotherapy

Kewen Lei

Cancer is one of the leading causes of death globally. Immunotherapy represents one of the most promising cancer treatments inducing complete and durable responses in a fraction of cancer patients. Despite the unprecedented clinical success achieved by T c ...

EPFL2022

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

Dylan Lawless

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

Cytokine engineering for targeted cancer immunotherapy

Li Tang, Lucia Bonati

Cytokines are key modulators of the immune responses and represent promising therapeutics for a variety of cancers. However, successful translation of cytokine-based therapy to the clinic is limited by, among others, severe toxicities and lack of efficacy ...

2021

Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection

Alessandro Borghesi

Unusual, severe infections or inflammatory episodes in newborns and infants are largely unexplained and often attributed to immature immune responses. Inborn errors of immunity (IEI) are increasingly recognized as the etiology of life-threatening inflammat ...

KARGER2021

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi

PUS3 encodes the pseudouridylate synthase 3, an enzyme catalyzing the formation of tRNA pseudouridine, which plays a critical role in tRNA structure, function, and stability. Biallelic pathogenic variants of PUS3 have been previously associated with severe ...

WILEY2022

Antiviral Screen against Canine Distemper Virus-Induced Membrane Fusion Activity

Gerardo Turcatti, Marc Chambon, Jonathan Patrice Vesin

Canine distemper virus (CDV), a close relative of the human pathogen measles virus (MeV), is an enveloped, negative sense RNA virus that belongs to the genus Morbillivirus and causes severe diseases in dogs and other carnivores. Although the vaccination is ...

2021

Human genomics of the humoral immune response against polyomaviruses

Jacques Fellay, Christian Axel Wandall Thorball, Christian Hammer, Flavia Aurelia Shoko Hodel, Zhi Ming Xu, Petar Scepanovic, Olivier Noël Marie Naret

Human polyomaviruses are widespread in humans and can cause severe disease in immunocompromised individuals. To identify human genetic determinants of the humoral immune response against polyomaviruses, we performed genome-wide association studies and meta ...

OXFORD UNIV PRESS2021

The FDA-Approved Drug Nelfinavir Inhibits Lytic Cell-Free but Not Cell-Associated Nonlytic Transmission of Human Adenovirus

Gerardo Turcatti, Fabien Kuttler

Adenoviruses (AdVs) are prevalent and give rise to chronic and re-current disease. Human AdV (HAdV) species B and C, such as HAdV-C2, -C5, and-B14, cause respiratory disease and constitute a health threat for immunocom-promised individuals. HAdV-Cs are wel ...

2020

Analysis of the lightning production of convective cells

Farhad Rachidi-Haeri, Marcos Rubinstein, Mohammad Azadifar, Antonio Sunjerga, Amirhossein Mostajabi, Jacopo Grazioli, Nikola Besic

This paper presents an analysis of the lightningproduction of convective cells. The cells were detected by the MeteoSwiss Thunderstorms Radar Tracking (TRT) algorithm in the course of a lightning measurement campaign thattook place in the summer of 2017 in ...

2019

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

The NAD-Booster Nicotinamide Riboside Potently Stimulates Hematopoiesis through Increased Mitochondrial Clearance

Johan Auwerx, Matthias Lütolf, Bart Deplancke, Carlos Canto Alvarez, George Coukos, Olaia Maria Naveiras Torres-Quiroga, Dongryeol Ryu, Yang Li, Josefine Catharina Pedersen Tratwal, Vasco Ledebur de Antas de Campos, Mukul Girotra, Joanna Ratajczak, Nicola Vannini, Eija Riitta Pirinen, Pedro Romero, Pernille Yde Rainer, Sonja Giger, Gennady Nikitin, Shanti Rojas-Sutterlin, Aurélien Laurent Jean-Charles Oggier, Vincent Trachsel

It has been recently shown that increased oxidative phosphorylation, as reflected by increased mitochondrial activity, together with impairment of the mitochondrial stress response, can severely compromise hematopoietic stem cell (HSC) regeneration. Here w ...

CELL PRESS2019

Metabolic and microenvironmental strategies to accelerate hematopoietic recovery post-aplasia

Vasco Ledebur de Antas de Campos

The procedure-associated mortality rate of bone marrow transplantations (BMT) remains close to 25%. The BMT is therefore only indicated for life-threatening diseases, with no replacement of this technology to be expected in the foreseeable future. Modest i ...

EPFL2019

The metabolite BH4 controls T cell proliferation in autoimmunity and cancer

Kai Johnsson, Jairo Alexander Lozano Moreno, Yann Mathieu Pierson

Genetic regulators and environmental stimuli modulate T cell activation in autoimmunity and cancer. The enzyme co-factor tetrahydrobiopterin (BH4) is involved in the production of monoamine neurotransmitters, the generation of nitric oxide, and pain(1,2). ...

NATURE PUBLISHING GROUP2018

Immunoengineering with biomaterials for enhanced cancer immunotherapy

Li Tang, Lixia Wei, Yuqing Xie

Cancer immunotherapy has recently shown dramatic clinical success inducing durable response in patients of a wide variety of malignancies. Further improvement of the clinical outcome with immune related cancer treatment requests more exquisite manipulation ...

2018

The melanization reaction in Drosophila: More than black or white

Jan Paul Dudzic

The melanization reaction is a rapid and important immune mechanism in arthropods. It results in the production of melanin at the site of injury and around invading microbes. The enzymes responsible for melanogenesis are phenoloxidases (PO), which catalyze ...

EPFL2018

Impedance Spectroscopy for Single Cell Analysis and Dispensing

David Vincent Bonzon

Flow cytometry is an essential tool in biology and medicine with applications in immunodeficiency diagnostic, immunosurveillence, organ transplantation in addition to its basic research usage. Before the widespread use of the Fluorescent-Activated Cell Sor ...

EPFL2017

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