Concept

Severe combined immunodeficiency

Related publications (80)

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

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

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 ...

WILEY2021

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 i ...

2021

Human genomics of the humoral immune response against polyomaviruses

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

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

Marcos Rubinstein, Mohammad Azadifar, Antonio Sunjerga, Amirhossein Mostajabi, Jacopo Grazioli, Nikola Besic, Urs Martin Germann

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

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