Résultat de recherche

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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Taking population stratification into account by local permutations in rare-variant association studies on small samples.

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

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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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Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing.

Yoann Seeleuthner, Gaspard Kerner, Mélanie Migaud, Jérémie Rosain, Bertrand Boisson, Anne Puel, Jacinta Bustamante , Jean-Laurent CASANOVA , Laurent Abel , Aurélie Cobat

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A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity.

Peng Zhang, Aurélie Cobat, Daniela Matuozzo, Soraya Boucherit, Jean-Laurent CASANOVA , Laurent Abel , Shen-Ying Zhang

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Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.

Jocelyn Quistrebert, Gaspard Kerner, Yoann Seeleuthner, Jacinta Bustamante , Stéphanie Boisson-Dupuis, Jean-Laurent CASANOVA , Alexandre Alcaïs, Laurent Abel , Aurélie Cobat

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Autoantibodies 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, Peng Zhang, 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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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, Peng Zhang, 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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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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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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