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| X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 325 | 2021 |
| Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency N Hernandez, I Melki, H Jing, T Habib, SSY Huang, J Danielson, T Kula, ... The Journal of experimental medicine 215 (10), 2567-2585, 2018 | 175 | 2018 |
| Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant S Boisson-Dupuis, N Ramirez-Alejo, Z Li, E Patin, G Rao, G Kerner, ... Science immunology 3 (30), eaau8714, 2018 | 168 | 2018 |
| A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity V Béziat, J Li, JX Lin, CS Ma, P Li, A Bousfiha, I Pellier, S Zoghi, S Baris, ... Science immunology 3 (24), eaat4956, 2018 | 168 | 2018 |
| Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines N Hernandez, G Bucciol, L Moens, J Le Pen, M Shahrooei, E Goudouris, ... Journal of Experimental Medicine 216 (9), 2057-2070, 2019 | 153 | 2019 |
| Combined immunodeficiency associated with homozygous MALT1 mutations ML McKinnon, J Rozmus, SY Fung, AF Hirschfeld, KL Del Bel, L Thomas, ... Journal of allergy and clinical immunology 133 (5), 1458-1462. e7, 2014 | 128 | 2014 |
| Attenuation of respiratory syncytial virus–induced and RIG-I–dependent type I IFN responses in human neonates and very young children N Marr, TI Wang, SHY Kam, YS Hu, AA Sharma, A Lam, J Markowski, ... The Journal of Immunology 192 (3), 948-957, 2014 | 121 | 2014 |
| Role of human TLR4 in respiratory syncytial virus-induced NF-κB activation, viral entry and replication N Marr, SE Turvey Innate immunity 18 (6), 856-865, 2012 | 106 | 2012 |
| Inherited human IFN-γ deficiency underlies mycobacterial disease G Kerner, J Rosain, A Guérin, A Al-Khabaz, C Oleaga-Quintas, ... The Journal of clinical investigation 130 (6), 3158-3171, 2020 | 104 | 2020 |
| Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria R Yang, F Mele, L Worley, D Langlais, J Rosain, I Benhsaien, H Elarabi, ... Cell 183 (7), 1826-1847. e31, 2020 | 101 | 2020 |
| Functional genetic variation in NFKBIA and susceptibility to childhood asthma, bronchiolitis, and bronchopulmonary dysplasia S Ali, AF Hirschfeld, ML Mayer, ES Fortuno, N Corbett, M Kaplan, S Wang, ... The Journal of Immunology 190 (8), 3949-3958, 2013 | 101 | 2013 |
| Bordetella pertussis autotransporter Vag8 binds human C1 esterase inhibitor and confers serum resistance N Marr, NR Shah, R Lee, EJ Kim, RC Fernandez PloS one 6 (6), e20585, 2011 | 86 | 2011 |
| Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child M Ogishi, R Yang, C Aytekin, D Langlais, M Bourgey, T Khan, FA Ali, ... Nature medicine 27 (9), 1646-1654, 2021 | 81 | 2021 |
| Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency P Bastard, J Manry, J Chen, J Rosain, Y Seeleuthner, O AbuZaitun, ... The Journal of clinical investigation 131 (1), 2021 | 79 | 2021 |
| Protective activity of the Bordetella pertussis BrkA autotransporter in the murine lung colonization model N Marr, DC Oliver, V Laurent, J Poolman, P Denoël, RC Fernandez Vaccine 26 (34), 4306-4311, 2008 | 75 | 2008 |
| Glucosamine Found as a Substituent of Both Phosphate Groups in Bordetella Lipid A Backbones: Role of a BvgAS-Activated ArnT Ortholog N Marr, A Tirsoaga, D Blanot, R Fernandez, M Caroff Journal of bacteriology 190 (12), 4281-4290, 2008 | 72 | 2008 |
| Distinct antibody repertoires against endemic human coronaviruses in children and adults T Khan, M Rahman, F Al Ali, SSY Huang, M Ata, Q Zhang, P Bastard, ... JCI insight 6 (4), 2021 | 60 | 2021 |
| Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease T Le Voyer, AL Neehus, R Yang, M Ogishi, J Rosain, F Alroqi, M Alshalan, ... Proceedings of the National Academy of Sciences 118 (15), e2102804118, 2021 | 59 | 2021 |
| Substitution of the Bordetella pertussis Lipid A Phosphate Groups with Glucosamine Is Required for Robust NF-κB Activation and Release of Proinflammatory … N Marr, AM Hajjar, NR Shah, A Novikov, CS Yam, M Caroff, ... Infection and immunity 78 (5), 2060-2069, 2010 | 59 | 2010 |
