Publications and ressources

Immunity to EBV as revealed by immunedeficiencies.

Sylvain Latour

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Controlling for human population stratification in rare variant association studies.

Matthieu Bouaziz, Yoann Seeleuthner, Jean-Laurent CASANOVA , Alexandre Alcaïs, Laurent Abel , Aurélie Cobat

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Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.

Claire Barbieux, Mathilde Bonnet des Claustres, Olivier Gouin, Florent Leturcq, Christine Bole, Vivien Beziat, Alain Hovnanian

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A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.

Camille DE CEVINS, Marine LUKA, Sonia MEYNIER, Aude Magerus, Laura BARNABEI, Alexandre BOULLE, Marie-Claude Stolzenberg, Vithura PIRABAKARAN, Quentin Riller, Ghaith ABDESSALEM, Mohammed ZARHRATE, Mélanie Parisot, Camille BRUNAUD, Shen-Ying Zhang, Jean-Laurent CASANOVA , Brigitte Bader-Meunier, Isabelle Melki, Damien Bonnet, Slimane Allali, Loïc de Pontual, Alain Fischer, Frédéric Rieux-Laucat

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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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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

Bertrand Boisson, Daniela Matuozzo, Majistor Raj Luxman MAGLORIUS RENKILARAJ, Peng Zhang, Yoann Seeleuthner, Anna-Lena Neehus, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Jacinta Bustamante , Anne Puel, Stéphanie Boisson-Dupuis, Shen-Ying Zhang, Vivien Beziat, Paul Bastard, Laurent Abel , Emmanuelle Jouanguy, Aurélie Cobat, Qian Zhang, Jean-Laurent CASANOVA , Laurent Abel , Jean-Laurent CASANOVA , Jacinta Bustamante , Loïc de Pontual, Jérome Hadjadj, Romain Levy, Isabelle Melki, Bénédicte Neven, Quentin Philippot, Olivier Gribouval, Anna Pelet, Laurent Abel

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Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.

Paul Bastard, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Jeremy Manry, Lucy Bizien, Mélanie Migaud, Soraya Boucherit, Stanislas Lyonnet, Bertrand Boisson, Vivien Beziat, Shen-Ying Zhang, Olivier Hermine, Anne Puel, Emmanuelle Jouanguy, Qian Zhang, Aurélie Cobat, Laurent Abel , Jean-Laurent CASANOVA , Soraya Boucherit, Maya Chrabieh, Yoann Seeleuthner, Jacinta Bustamante , Loïc de Pontual, Jérome Hadjadj, Romain Levy, Isabelle Melki, Bénédicte Neven, Quentin Philippot, Laurent Abel , Olivier Gribouval, Anna Pelet, Laurent Abel , Nadine CERF-BENSUSSAN , Antonio Rausell, Frédéric Rieux-Laucat, Laurent Abel , Jean-Laurent CASANOVA

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Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.

Marine Madrange, Corinne Lebreton, Olivier Pellé

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Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease

Alice Lepelley, Yanick Crow

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JAK inhibition in the type I interferonopathies.

Yanick Crow , Marie-Louise Frémond

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Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia.

Qian Zhang, Aurélie Cobat, Paul Bastard, Laurent Abel , Jean-Laurent CASANOVA

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Heart Development and Congenital Structural Heart Defects.

Sigolène Meilhac

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Alternative pathways for the development of lymphoid structures in humans.

Nathalie Boddaert, Claude Griscelli, Bénédicte Neven, Alain Fischer

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Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition.

Yoann Saillour, Andrzej W Cwetsch, Alessandra Pierani, Frédéric Causeret

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Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome

Nicolas Garcelon, Rima NABBOUT, Mathieu Kuchenbuch , Antoine Neuraz

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