Publications and ressources

Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth.

Nabil Kaci, Léa Loisay, Emilie Dambroise, Laurence Legeai-Mallet

Source :

Pmid / DOI:

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Karine Siquier , Vincent Cantagrel, Jeanne Amiel, Nathalie Boddaert

Source :

Pmid / DOI:

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 :

Pmid / DOI:

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

Emmanuelle SIX, Antonio Rausell

Source :

Pmid / DOI:

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 :

Pmid / DOI:

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

Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

Source :

Pmid / DOI:

Intestinal immunoregulation: lessons from human mendelian diseases.

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

Source :

Pmid / DOI:

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

Nicolas Garcelon, Nathalie Boddaert, Thomas Blauwblomme

Source :

Pmid / DOI:

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 :

Pmid / DOI:

STING-Mediated Lung Inflammation and Beyond.

Marie-Louise Frémond

Source :

Pmid / DOI:

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 :

Pmid / DOI:

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

Lydie Burglen

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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 :

Pmid / DOI:

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

Source :

Pmid / DOI: