Publications related to Primary immunodeficiency

SPICA: Swiss portal for immune cell analysis

Nicolas Jean Philippe Guex, Christian Iseli

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

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

Mechano-modulatory synthetic niches for liver organoid derivation

Kristina Schoonjans, Matthias Lütolf, Giovanni Sorrentino, Saba Rezakhani, Ece Yildiz

The recent demonstration that primary cells from the liver can be expanded in vitro as organoids holds enormous promise for regenerative medicine and disease modelling. The use of three-dimensional (3D) cultures based on ill-defined and potentially immunog ...

NATURE PUBLISHING GROUP2020

Predicting the Occurrence of Variants in RAG1 and RAG2

Jacques Fellay, Dylan Lawless, Flavia Aurelia Shoko Hodel

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

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

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

Jacques Fellay, Amalio Telenti, Istvan Bartha, Christian Hammer, Thomas Junier, Samira Asgari

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, 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

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Primary immunodeficiency

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

SPICA: Swiss portal for immune cell analysis

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

Mechano-modulatory synthetic niches for liver organoid derivation

Predicting the Occurrence of Variants in RAG1 and RAG2

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

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

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

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

Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis

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

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

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

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

Predicting the Occurrence of Variants in RAG1 and RAG2

Mechano-modulatory synthetic niches for liver organoid derivation

Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis

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

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

SPICA: Swiss portal for immune cell analysis