Resources

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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A genome-wide case-only test for the detection of digenic inheritance in human exomes.

Gaspard Kerner, Matthieu Bouaziz, Aurélie Cobat, Jacinta Bustamante , Jean-Laurent CASANOVA , Laurent Abel

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

Asma Smahi, Hervé Bachelez

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Donor-targeted serotherapy as a rescue therapy for steroid-resistant acute GVHD after HLA-mismatched kidney transplantation.

Julien ZUBER, Olivia Boyer, Bénédicte Neven, Romain Levy, Baptiste LAMARTHÉE, Michael Dussiot, Isabelle André, Marina Cavazzana

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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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The complex pattern of genetic associations of leprosy with HLA class I and class II alleles can be reduced to four amino acid positions.

Chaïma Gzara, Alexandre Alcaïs, Laurent Abel , Aurélie Cobat

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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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Intraflagellar Transport Complex B Proteins Regulate the Hippo Effector Yap1 during Cardiogenesis.

Laurent GUILLEMOT, Sigolène Meilhac

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Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Jérome Hadjadj, Laura BARNABEI, Alain Fischer, Frédéric Rieux-Laucat

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Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Jérome Hadjadj, Laura BARNABEI, Alain Fischer, Frédéric Rieux-Laucat

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Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

Giulia Menara, Nathalie Lefort, Corinne Antignac, Géraldine Mollet

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