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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

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

Pascal Pujol , Pierre Vande Perre , Laurence Faivre , Damien Sanlaville , Carole Corsini et al.
European Journal of Human Genetics, 2018, 26 (12), pp.1732-1742. ⟨10.1038/s41431-018-0224-1⟩
Journal articles hal-01870352v1
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Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

Tom Le Voyer , Anna-Lena Neehus , Rui Yang , Masato Ogishi , Jérémie Rosain et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (15), pp.e2102804118. ⟨10.1073/pnas.2102804118⟩
Journal articles hal-03371686v1

TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons

Daxing Gao , Michael J. Ciancanelli , Peng Zhang , Oliver Harschnitz , Vincent Bondet et al.
Journal of Clinical Investigation, 2021, 131 (1), pp.e134529. ⟨10.1172/JCI134529⟩
Journal articles pasteur-03236241v1

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

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

Lorenzo Lodi , Isabelle Melki , Vincent Bondet , Luis Seabra , Gillian I. Rice et al.
Journal of Clinical Immunology, 2021, 41 (3), pp.603-609. ⟨10.1007/s10875-020-00952-x⟩
Journal articles pasteur-03236262v1

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Mathieu P Rodero , Nicholas Hernandez , Isabelle Melki , Huie Jing , Tanwir Habib et al.
Journal of Experimental Medicine, 2018, 215 (10), pp.2567-2585. ⟨10.1084/JEM.20180628⟩
Journal articles hal-02996479v1
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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 Early Life Exposome (HELIX) study : a European population-based exposome cohort

Léa Maitre , Jeroen de Bont , Maribel Casas , Olivier Robinson , Gunn Marit Aasvang et al.
BMJ Open, 2018, 8, pp.e021311. ⟨10.1136/bmjopen-2017-021311⟩
Journal articles ineris-03319120v1

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

Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome

Hassan Abolhassani , Nils Landegren , Paul Bastard , Marie Materna , Mohammadreza Modaresi et al.
Journal of Clinical Immunology, 2022, 42 (3), pp.471-483. ⟨10.1007/s10875-022-01215-7⟩
Journal articles hal-03691612v1
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JAK Inhibition in the Aicardi–Goutières Syndrome

Bénédicte Neven , Buthaina Al Adba , Marie Hully , Isabelle Desguerre , Claire Pressiat et al.
New England Journal of Medicine, 2020, 383 (22), pp.2190-2193. ⟨10.1056/NEJMc2031081⟩
Journal articles pasteur-03155975v1
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Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Danyel Lee , Jérémie Le Pen , Ahmad Yatim , Beihua Dong , Yann Aquino et al.
Science, 2023, 379 (6632), pp.eabo3627. ⟨10.1126/science.abo3627⟩
Journal articles hal-04089777v1