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EVER2 Deficiency is Associated with Mild T-cell Abnormalities

Amandine Crequer , Capucine Picard , Vincent Pedergnana , Annick Lim , Shen-Ying Zhang et al.
Journal of Clinical Immunology, 2013, 33 (1), pp.14-21. ⟨10.1007/s10875-012-9749-1⟩
Journal articles hal-03691617v1
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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

A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis

Camille de Cevins , Marine Luka , Nikaïa Smith , Sonia Meynier , Aude Magérus et al.
Med, 2021, 2 (9), pp.1072-1092.e7. ⟨10.1016/j.medj.2021.08.002⟩
Journal articles hal-03590894v1
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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Franck Rapaport , Bertrand Boisson , Anne Gregor , Vivien Béziat , Stéphanie Boisson-Dupuis et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Journal articles hal-03372676v1

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

Evangelos Andreakos , Laurent Abel , Donald Vinh , Elżbieta Kaja , Beth Drolet et al.
Nature Immunology, 2022, 23 (2), pp.159-164. ⟨10.1038/s41590-021-01030-z⟩
Journal articles hal-03558195v1

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

Hassan Abolhassani , Ahmad Vosughimotlagh , Takaki Asano , Nils Landegren , Bertrand Boisson et al.
Journal of Clinical Immunology, 2021, ⟨10.1007/s10875-021-01151-y⟩
Journal articles hal-03554732v1
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul Bastard , Lindsey B. Rosen , Qian Zhang , Eleftherios Michailidis , Hans-Heinrich Hoffmann et al.
Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Journal articles pasteur-02958871v1

Neuron-intrinsic immunity to viruses in mice and humans

Shen-Ying Zhang , Oliver Harschnitz , Lorenz Studer , Jean-Laurent Casanova
Current Opinion in Immunology, 2021, 72, pp.309-317. ⟨10.1016/j.coi.2021.07.004⟩
Journal articles hal-03535695v1

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Kerry Dobbs , Cecilia Domínguez Conde , Shen-Ying Zhang , Silvia Parolini , Magali Audry et al.
New England Journal of Medicine, 2015, 372 (25), pp.2409-2422. ⟨10.1056/NEJMoa1413462⟩
Journal articles hal-03691724v1
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Single-Cell and Bulk RNA-Sequencing Reveal Differences in Monocyte Susceptibility to Influenza A Virus Infection Between Africans and Europeans

Mary B O’neill , Hélène Quach , Julien Pothlichet , Yann Aquino , Aurélie Bisiaux et al.
Frontiers in Immunology, 2021, 12, ⟨10.3389/fimmu.2021.768189⟩
Journal articles hal-03499159v1

TLR3 deficiency in patients with herpes simplex encephalitis.

Shen-Ying Zhang , Emmanuelle Jouanguy , Sophie Ugolini , Asma Smahi , Gaëlle Elain et al.
Science, 2007, 317 (5844), pp.1522-7. ⟨10.1126/science.1139522⟩
Journal articles hal-00297308v1

Type I interferons and SARS-CoV-2: from cells to organisms

Paul Bastard , Qian Zhang , Shen-Ying Zhang , Emmanuelle Jouanguy , Jean-Laurent Casanova et al.
Current Opinion in Immunology, 2022, 74, pp.172-182. ⟨10.1016/j.coi.2022.01.003⟩
Journal articles hal-03685760v1
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Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis

Jie Chen , Huie Jing , Andrea Martin-Nalda , Paul Bastard , Jacques Rivière et al.
Journal of Experimental Medicine, 2021, 218 (12), ⟨10.1084/jem.20211349⟩
Journal articles hal-03531867v1
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A monocyte/dendritic cell molecular signature of SARS-CoV2-related multisystem inflammatory syndrome in children (MIS-C) with severe myocarditis

Camille de Cevins , Marine Luka , Nikaïa Smith , Sonia Meynier , Aude Magérus et al.
2021
Preprints, Working Papers, ... pasteur-03244400v1

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.

Cheng-Lung Ku , Horst von Bernuth , Capucine Picard , Shen-Ying Zhang , Huey-Hsuan Chang et al.
Journal of Experimental Medicine, 2007, 204 (10), pp.2407-22. ⟨10.1084/jem.20070628⟩
Journal articles hal-00297302v1

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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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Jean-Laurent Casanova , Andrew Wood , Lluis Quintana-Murci , Ryan Minster , Andrés Moreno-Estrada et al.
Journal of Experimental Medicine, 2022, 219 (6), pp.e20220028. ⟨10.1084/jem.20220028⟩
Journal articles pasteur-03681917v1

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

Fabien Lafaille , Oliver Harschnitz , Yoon Seung Lee , Peng Zhang , Mary Hasek et al.
Nature Medicine, 2019, 25 (12), pp.1873-1884. ⟨10.1038/s41591-019-0672-3⟩
Journal articles pasteur-02549798v1

Polyclonal expansion of TCR Vb 21.3 + CD4 + and CD8 + T cells is a hallmark of multisystem inflammatory syndrome in children

Marion Moreews , Kenz Le Gouge , Samira Khaldi-Plassart , Rémi Pescarmona , Anne-Laure Mathieu et al.
Science Immunology, 2021, 6 (59), pp.eabh1516. ⟨10.1126/sciimmunol.abh1516⟩
Journal articles hal-03298662v1
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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
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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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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 , Adrian Gervais , Tom Le Voyer , Jeremie Rosain , Quentin Philippot et al.
Science Immunology, 2021, 6 (62), pp.eabl4340. ⟨10.1126/sciimmunol.abl4340⟩
Journal articles hal-03358792v1
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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