Publications and ressources

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

Jérémie Rosain, Tom Le Voyer, Laura Polivka, Quentin Philippot, Lucy Bizien, Romain Levy, Soraya Boucherit, Anna-Lena Neehus, Mélanie Migaud, Capucine Picard , Claire Soudais, Shen-Ying Zhang, Nathalie Boddaert, Laurent Abel , Emmanuelle Jouanguy, Qian Zhang, Aurélie Cobat, Vivien Beziat, Bertrand Boisson, Julie STEFFANN, Jacinta Bustamante , Anne Puel, Paul Bastard, Jean-Laurent CASANOVA

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Human genetic and immunological determinants of critical COVID-19 pneumonia.

Qian Zhang, Paul Bastard, Aurélie Cobat, Jean-Laurent CASANOVA , Anna-Lena Neehus, Anne Puel, Bertrand Boisson, Daniela Matuozzo, Emmanuelle Jouanguy, Jean-Laurent CASANOVA , Jérémie Rosain, Jeremy Manry, Laurent Abel , Lucia Victoria Erazo, Quentin Philippot, Romain Levy, Shen-Ying Zhang, Stéphanie Boisson-Dupuis, Tom Le Voyer, Vivien Beziat

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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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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.

Laurent Abel , Jean-Laurent CASANOVA , Antonio Rausell

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Inherited human IFN-γ deficiency underlies mycobacterial disease.

Jacinta Bustamante

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Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Jean-Laurent CASANOVA , Emmanuelle Jouanguy, Laurent Abel

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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Jean-Laurent CASANOVA

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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.

Jean-Laurent CASANOVA

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Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

Laurent Abel , Aurélie Cobat, Emmanuelle Jouanguy, Jean-Laurent CASANOVA

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CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Laurent Abel

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Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

Laurent Abel , Gaspard Kerner, Aurélie Cobat

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A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Jacinta Bustamante , Jean-Laurent CASANOVA , Laurent Abel

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Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Jean-Laurent CASANOVA , Emmanuelle Jouanguy, Laurent Abel

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Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Jean-Laurent CASANOVA

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