Publications and ressources

Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nadine CERF-BENSUSSAN , Sylvain Latour, Rémi DUCLAUX-LORAS, Emmanuel Martin, Frédéric Rieux-Laucat

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Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation.

Marianna Parlato, Fabienne CHARBIT-HENRION, Nadine CERF-BENSUSSAN , Bernadette BEGUE, Sylvain Latour, Rémi DUCLAUX-LORAS, Emmanuel Martin, Frédéric Rieux-Laucat

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Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Jérome Hadjadj, Marie-Claude Stolzenberg, Fabienne Mazerolles, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat

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Mesoderm patterning by a dynamic gradient of retinoic acid signalling.

Ségolène Bernheim , Sigolène Meilhac

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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Laurence Hubert, Jean-Michel Rozet, Arnold Munnich, Claude Besmond

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Generation of two induced pluripotent stem cell lines IMAGINi004-A and IMAGINi005-A from healthy donors.

Eddy Quelennec, Céline BANAL, Marie MICHAEL, Nathalie Lefort

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Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.

Céline BANAL, Eddy Quelennec, Jeanne Amiel, Sandrine Marlin, Véronique Pingault, Nathalie Lefort, Nadège Bondurand

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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Qian Zhang, Paul Bastard, Cecilia Korol, Jérémie Rosain, Quentin Philippot, Lucy Bizien, Anna-Lena Neehus, Gaspard Kerner, Yoann Seeleuthner, Jeremy Manry, Yohann SCHMITT, Tom Le Voyer, Bertrand Boisson, Stéphanie Boisson-Dupuis, Jacinta Bustamante , Anne Puel, Shen-Ying Zhang, Vivien Beziat, Emmanuelle Jouanguy, Laurent Abel , Aurélie Cobat, Jean-Laurent CASANOVA , Jacinta Bustamante , Loïc de Pontual, Jérome Hadjadj, Romain Levy, Isabelle Melki, Quentin Philippot, Stanislas Lyonnet, Patrick Nitschké, Aurore POULIET, Mohammed ZARHRATE, Laurent Abel , Laurent Abel , Jean-Laurent CASANOVA

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Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.

Paul Bastard, Qian Zhang, Quentin Philippot, Jérémie Rosain, Vivien Beziat, Jeremy Manry, Lucy Bizien, Gaspard Kerner, Yoann Seeleuthner, Mélanie Migaud, Jérome Hadjadj, Stéphanie Boisson-Dupuis, Frédéric Rieux-Laucat, Anne Puel, Shen-Ying Zhang, Emmanuelle Jouanguy, Aurélie Cobat, Laurent Abel , Jean-Laurent CASANOVA , Bertrand Boisson, Soraya Boucherit, Jacinta Bustamante , Maya Chrabieh, Tom Le Voyer, Cécile Patissier, Manon Roynard, Natasha Vladikine, Jacinta Bustamante , Loïc de Pontual, Jérome Hadjadj, Romain Levy, Isabelle Melki, Quentin Philippot, Stanislas Lyonnet, Patrick Nitschké, Aurore POULIET, Mohammed ZARHRATE, Laurent Abel , Laurent Abel , Antonio Rausell, Laurent Abel , Jean-Laurent CASANOVA

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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet

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FGFR3 in Periosteal Cells Drives Cartilage-to-Bone Transformation in Bone Repair.

Caroline Carvalho, Laurence Legeai-Mallet

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Novel therapeutic approaches for the treatment of achondroplasia.

Laurence Legeai-Mallet

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Cell-ID: gene signature extraction and cell identity recognition at individual cell levelation

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From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

Loïc CHENTOUT, Bertrand Boisson, Aurore POULIET, Anne DURANDY, Jean-Laurent CASANOVA , Sven KRACKER

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Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa.

Florence Assan , Asma Smahi, Hervé Bachelez

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