Publications associées à T cell deficiency

Blunted Glucocorticoid Responsiveness to Stress Causes Behavioral and Biological Alterations That Lead to Posttraumatic Stress Disorder Vulnerability

Maria del Carmen Sandi Perez, Jocelin Grosse, Olivia Zanoletti, Simone Astori, Marie-Isabelle Guillot de Suduiraut, Sophie Elizabeth Walker, Silvia Monari

Background: Understanding why only a subset of trauma-exposed individuals develop posttraumatic stress disorder is critical for advancing clinical strategies. A few behavioral (deficits in fear extinction) and biological (blunted glucocorticoid levels, sma ...

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

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

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

Measurement of Mitochondrial Mass and Membrane Potential in Hematopoietic Stem Cells and T-cells by Flow Cytometry

Olaia Maria Naveiras Torres-Quiroga, Mukul Girotra, George Coukos, Nicola Vannini, Alexandre Harari

A fine balance of quiescence, self-renewal, and differentiation is key to preserve the hematopoietic stem cell (HSC) pool and maintain lifelong production of all mature blood cells. In recent years cellular metabolism has emerged as a crucial regulator of ...

2019

Absence of specific alternatively spliced exon of CD44 in macrophages prevents colitis

Ulrich Hoffmann, Riccardo Sabatini

CD44 is a transmembrane molecule appearing in numerous isoforms generated by insertions of alternatively spliced variant exons (CD44v) and having various binding partners. CD44v7 on T cells was proposed to promote colitis by preventing T-cell apoptosis. He ...

NATURE PUBLISHING GROUP2018

Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism

Benjamin Dieter Weger, Meltem Weger

Background: Deficient glucocorticoid biosynthesis leading to adrenal insufficiency is life-threatening and is associated with significant co-morbidities. The affected pathways underlying the pathophysiology of co-morbidities due to glucocorticoid deficienc ...

2018

Extensive Regulation of Diurnal Transcription and Metabolism by Glucocorticoids

Cédric Gobet, Meltem Weger, Frédéric Bruno Martin Gachon, Benjamin Dieter Weger

Altered daily patterns of hormone action are suspected to contribute to metabolic disease. It is poorly understood how the adrenal glucocorticoid hormones contribute to the coordination of daily global patterns of transcription and metabolism. Here, we exa ...

Public Library Science2016

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

New immunomodulatory roles of lymphatic endothelium and implications for immunotherapy

Efthymia Vokali

The lymphatic system serves a critical role in fluid homeostasis, lipid metabolism and immune surveillance. The growing appreciation of its implication in various diseases challenges the conventional view of lymphatics as a passive transport system. Tradit ...

EPFL2016