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Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.

Paul Bastard, Shen-Ying Zhang, Laurent Abel , Jean-Laurent CASANOVA

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Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.

Paul Bastard, Shen-Ying Zhang, Laurent Abel , Jean-Laurent CASANOVA

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Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

Martina Riva, Sofia Ferreira, Vera Medvedeva, Frédéric Causeret, Nadia Bahi-Buisson, Alessandra Pierani

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

Alessandra Pierani

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

Yanick Crow , Marie-Louise Frémond

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

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

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Karine Siquier , Vincent Cantagrel, Jeanne Amiel, Nathalie Boddaert

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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

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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

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

Emmanuelle SIX, Antonio Rausell

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

Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

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Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.

Floriane PETIT, Michael Dussiot, Olivier Hermine, Arnold Munnich, Agnès Rötig

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Intestinal immunoregulation: lessons from human mendelian diseases.

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

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

Nicolas Garcelon, Nathalie Boddaert, Thomas Blauwblomme

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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

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