Publications and ressources

Wiring of higher-order cortical areas: Spatiotemporal development of cortical hierarchy.

Alessandra Pierani

Source : Semin Cell Dev Biol

2021 May 22

Pmid : 34034988

Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.

Yanick Crow , Marie-Louise Frémond

Source : Rheumatology (Oxford)

2021 May 14

Pmid : 33877315

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Karine Siquier , Vincent Cantagrel, Jeanne Amiel, Nathalie Boddaert

Source : Nat Commun

2021 May 7

Pmid : 33963192

Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.

Emmanuelle SIX, Marianne DELVILLE, Julien ZUBER, Bénédicte Neven, Nadine CERF-BENSUSSAN , Frédéric Rieux-Laucat, Marina Cavazzana, Isabelle André

Source : Nat Immunol

2021 May 1

Pmid : 33833438

Gene signature extraction and cell identity recognition at the single-cell level with Cell-ID.

Emmanuelle SIX, Antonio Rausell

Source : Nat Biotechnol

2021 Apr 29

Pmid : 33927417

A combination of cyclophosphamide and interleukin-2 allows CD4+ T cells converted to Tregs to control scurfy syndrome.

Marianne DELVILLE, Florence BELLIER, Sabrina LIZOT, Hélène VINÇON, Steicy SOBRINO, Romane THOUENON, Alexandrine GARRIGUE, Juliette OLIVRÉ, Soëli CHARBONNIER, Chantal LAGRESLE-PEYROU, Baptiste LAMARTHÉE, Julien ZUBER, Isabelle André, Marina Cavazzana, Emmanuelle SIX

Source : Blood

2021 Apr 29

Pmid : 33545713

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Stanislas Lyonnet, Jeanne Amiel

Source : Am J Hum Genet

2021 Apr 21

Pmid : 33909992

Intestinal immunoregulation: lessons from human mendelian diseases.

Fabienne CHARBIT-HENRION, Marianna Parlato, Georgia MALAMUT, Frank RUEMMELE, Nadine CERF-BENSUSSAN

Source : Mucosal Immunol

2021 Apr 15

Pmid : 33859369

Mortality and functional outcome after pediatric intracerebral hemorrhage: cohort study and meta-analysis.

Nicolas Garcelon, Nathalie Boddaert, Thomas Blauwblomme

Source : J Neurosurg Pediatr

2021 Apr 9

Pmid : 33836498

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine.

Paul Bastard, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Yoann Seeleuthner, Lucy Bizien, Maya Chrabieh, Vivien Beziat, Aurélie Cobat, Anne Puel, Shen-Ying Zhang, Laurent Abel , Qian Zhang, Emmanuelle Jouanguy, Jean-Laurent CASANOVA

Source : J Exp Med

2021 Apr 5

Pmid : 33544838

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.

Isabelle Melki, Luís Seabra, Alice Lepelley, Brigitte Bader-Meunier, Thomas Blauwblomme, Romain Levy, Pierre Quartier, Bénédicte Neven, Marie-Louise Frémond

Source : J Clin Immunol

2021 Apr 1

Pmid : 33411153

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Lydie Burglen

Source : Ann Neurol

2021 Apr 1

Pmid : 33443317

STING-Mediated Lung Inflammation and Beyond.

Marie-Louise Frémond

Source : J Clin Immunol

2021 Apr 1

Pmid : 33532887

Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes

Source : medRxiv

2021 Mar 26

Pmid :

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Karine Siquier , Agnès Rötig, Stanislas Lyonnet, Giulia Barcia, Vincent Cantagrel, Olivier Hermine

Source : Blood

2021 Mar 24

Pmid : 33763700