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

Stéphanie Boisson-Dupuis , Noe Ramirez-Alejo , Zhi Li , Etienne Patin , Geetha Rao , et al.
Science Immunology, 2018, 3 (30), pp.eaau8714. ⟨10.1126/sciimmunol.aau8714⟩
Journal articles pasteur-02070591v1
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ISG15 deficiency and increased viral resistance in humans but not mice.

Scott D Speer , Zhi Li , Sofija Buta , Béatrice Payelle-Brogard , Li Qian , et al.
Nature Communications, 2016, 7, pp.11496. ⟨10.1038/ncomms11496⟩
Journal articles pasteur-02070604v1

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Ruben Martinez-Barricarte , Janet Markle , Cindy Ma , Elissa K Deenick , Noe Ramirez-Alejo , et al.
Science Immunology, 2018, 3 (30), pp.eaau6759. ⟨10.1126/sciimmunol.aau6759⟩
Journal articles hal-02352927v1

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

Fanny Lanternier , Elisa Barbati , Ulrich Meinzer , Luyan Liu , Vincent Pedergnana , et al.
Journal of Infectious Diseases, 2015, 211 (8), pp.1241-1250. ⟨10.1093/infdis/jiu412⟩
Journal articles hal-02634252v1

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both

Fanny Lanternier , Seyed Alireza Mahdaviani , Elisa Barbati , Hélène Chaussade , Yatrika Koumar , et al.
Journal of Allergy and Clinical Immunology, 2015, 135 (6), pp.1558 - 1568.e2. ⟨10.1016/j.jaci.2014.12.1930⟩
Journal articles hal-01936359v1

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Vivien Beziat , Juan Li , Jian-Xin Lin , Cindy Ma , Peng Li , et al.
Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Journal articles hal-02392068v1

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

Paul Bastard , Jeremy Manry , Jie Chen , Jérémie Rosain , Yoann Seeleuthner , et al.
Journal of Clinical Investigation, 2021, 131 (1), ⟨10.1172/JCI139980⟩
Journal articles hal-03552934v1
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IRF4 haploinsufficiency in a family with Whipple's disease

Antoine Guerin , Gaspard Kerner , Nico Marr , Janet G. Markle , Florence Fenollar , et al.
eLife, 2018, 7, pp.e32340. ⟨10.7554/eLife.32340⟩
Journal articles hal-01789213v1
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Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

Rui Yang , Federico Mele , Lisa Worley , David Langlais , Jérémie Rosain , et al.
Cell, 2020, 183 (7), pp.1826-1847.e31. ⟨10.1016/j.cell.2020.10.046⟩
Journal articles pasteur-03260339v1
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian Zhang , Paul Bastard , Zhiyong Liu , Jérémie Le Pen , Marcela Moncada-Velez , et al.
Science, 2020, 370 (6515), pp.eabd4570. ⟨10.1126/science.abd4570⟩
Journal articles hal-02950982v1
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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Mathieu P Rodero , Takaki Asano , Bertrand Boisson , Fanny Onodi , Daniela Matuozzo , et al.
Science Immunology, 2021, 6 (62), ⟨10.1126/sciimmunol.abl4348⟩
Journal articles hal-03367639v1
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SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Vanessa Sancho-Shimizu , Petter Brodin , Aurélie Cobat , Catherine Biggs , Julie Toubiana , et al.
Journal of Experimental Medicine, 2021, 218 (6), ⟨10.1084/jem.20210446⟩
Journal articles hal-03549287v1