Publications and ressources

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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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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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 novel genetic architecture of infectious diseases.

Laurent Abel

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

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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PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations.

Laurent Abel

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

Laurent Abel , Jean-Laurent CASANOVA , Emmanuelle Jouanguy

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Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Jean-Laurent CASANOVA , Laurent Abel , Aurélie Cobat

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