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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

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

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Maria Elena Maccari , Hassan Abolhassani , Asghar Aghamohammadi , Alessandro Aiuti , Olga Aleinikova et al.
Frontiers in Immunology, 2018, 9, ⟨10.3389/fimmu.2018.00543⟩
Journal articles hal-02323316v1

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency

Bethany Pillay , Mathieu Fusaro , Paul Gray , Aaron Statham , Leslie Burnett et al.
Journal of Clinical Investigation, 2021, 131 (3), ⟨10.1172/JCI142434⟩
Journal articles hal-03442954v1

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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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Sujal Ghosh , Sevgi Köstel Bal , Emily Edwards , Bethany Pillay , Raúl Jiménez Heredia et al.
Blood, 2020, 136 (23), pp.2638-2655. ⟨10.1182/blood.2020006738⟩
Journal articles hal-03066024v1

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Elin Enervald , Likun Du , Torkild Visnes , Andrea Björkman , Emma Lindgren et al.
Journal of Experimental Medicine, 2013, 210 (12), pp.2503-2513. ⟨10.1084/jem.20130168⟩
Journal articles hal-02142266v1
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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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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