Summary of Our Work

For many years, up to 25 years for some, members of the COVID Human Genetic Effort have studied the human genetic and immunological bases of life-threatening diseases striking previously healthy individuals in the course of primary infection by a variety of viruses, bacteria, fungi, or parasites (Casanova JL & Abel L. Annual Review of Pathology 2021). In particular, we and others have identified monogenic inborn errors of immunity (IEI) that selectively underlie life-threatening or lethal viral diseases in previously healthy children or adults, including various severe diseases caused by Epstein-Barr virus, herpes simplex virus encephalitis, varicella zoster virus encephalitis, fulminant hepatitis due to hepatitis A virus, lethal primary infection by cytomegalovirus, severe pneumonitis due to influenza virus or rhinovirus, beta-papillomavirus-driven skin cancer, human herpes virus 8-driven Kaposi sarcoma, and others (see references below) (Casanova JL & Abel L. Science 2021).

In December 2019, a pneumonia due to a novel coronavirus (designated SARS-CoV-2) emerged in China, and quickly spread world-wide with an increasing number of cases and deaths. In populations naive to this new virus, there has been stunning inter-individual variability among infected individuals, ranging from asymptomatic infection to lethal coronavirus infectious disease-19 (COVID-19) pneumonia. Although this is not proven yet, there may be individuals completely resistant to the infection itself, as seen with other viruses. A specific group of infected individuals is at very high risk for severe pneumonia: elderly individuals (>65 years). Only a small proportion of otherwise healthy, relatively young people therefore fail to control SARS-CoV-2 infection and require hospitalization in a pediatric or adult intensive care unit (ICU). Another specific group is at risk of MIS-C: children and adolescents. However, most individuals in this age group control the virus well. There is no clearly identifiable epidemiological risk factor for the development of ‘Long COVID’, which can strike individuals at various ages, while ‘COVID Toes’ (pernio) seem to preferentially affect children.

COVID Human Genetic Effort Aims

In collaboration with many colleagues around the world, our first project is focused on critical COVID-19 pneumonia and tackles three specific aims:

1) Recruit patients with critical COVID-19 pneumonia (and their family members, and seropositive individuals who had remained asymptomatic, when available, as controls).

2) Search for candidate disease-causing monogenic variants by whole-exome sequencing/whole-genome sequencing of patients and controls (including asymptomatic infected subjects).

3) Perform functional studies to characterize the products of the candidate variants biochemically, and to analyze the corresponding patients’ cells immunologically.

This ‘monogenic approach’ should reveal the critical circuits involved in the pathogenesis of critical COVID-19 pneumonia, which may also be otherwise disrupted in other patients, thereby paving the way for the development of novel preventive and therapeutic strategies of general relevance.

In our other projects searching for susceptibility genes, we apply the very same approach to MIS-C, Long COVID, COVID Toes, and other clinical manifestations of SARS-CoV-2 infection (e.g. Guillain-Barré syndrome, encephalitis, etc.).

On the side of genetic resistance, we will search for, enroll, and study individuals who have not been infected by SARS-CoV2 despite repeated exposure (e.g. in the household of a patient with severe pneumonitis), as attested by the lack of both disease and specific antibody titers against the virus. If such individuals are identified, we will test the hypothesis that some of them carry monogenic variations that make them naturally resistant to the entry of the virus, as previously shown for DARC and Plasmodium vivax, CCR5 and HIV, and FUT2 and norovirus (see references below). We will also study individuals in populations at risk (e.g. > 65 years) who did not develop any clinical manifestation despite documented infection, searching for mechanisms that prevent the development of disease in these infected individuals.

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References

1. Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, Allikmets R, et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. Science 1996; 273(5283):1856-1862.

2. Liu R, Paxton WA, Choe S, Ceradini D, Martin SR, Horuk R, et al. Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell 1996; 86(3):367-377.

3. Samson M, Libert F, Doranz BJ, Rucker J, Liesnard C, Farber CM, et al. Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 1996; 382(6593):722-725.

4. Lindesmith L, Moe C, Marionneau S, Ruvoen N, Jiang X, Lindblad L, et al. Human susceptibility and resistance to Norwalk virus infection. Nat Med 2003; 9(5):548-553.

5. Miller LH, Mason SJ, Clyde DF, McGinniss MH. The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy. N Engl J Med 1976; 295(6):302-304.

6. Ciancanelli MJ, Huang SX, Luthra P, Garner H, Itan Y, Volpi S, et al. Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science 2015; 348(6233):448-453.

7. Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, et al. Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. J Exp Med 2018; 215(10):2567-2585.

8. Lim HK, Huang SXL, Chen J, Kerner G, Gilliaux O, Bastard P, et al. Severe influenza pneumonitis in children with inherited TLR3 deficiency. J Exp Med 2019; 216(9):2038-2056.

9. Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, et al. Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med 2017; 214(7):1949-1972.

10. Asgari S, Schlapbach LJ, Anchisi S, Hammer C, Bartha I, Junier T, et al. Severe viral respiratory infections in children with IFIH1 loss-of-function mutations. Proc Natl Acad Sci U S A 2017; 114(31):8342-8347.

11. Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 2006; 314(5797):308-312.

12. Zhang SY, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 2007; 317(5844):1522-1527.

13. Sancho-Shimizu V, Perez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, et al. Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest 2011; 121(12):4889-4902.

14. Perez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, et al. Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity 2010; 33(3):400-411.

15. Herman M, Ciancanelli M, Ou YH, Lorenzo L, Klaudel-Dreszler M, Pauwels E, et al. Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med 2012; 209(9):1567-1582.

16. Andersen LL, Mork N, Reinert LS, Kofod-Olsen E, Narita R, Jorgensen SE, et al. Functional IRF3 deficiency in a patient with herpes simplex encephalitis. J Exp Med 2015; 212(9):1371-1379.

17. Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G, et al. Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis. Nat Med 2019; 25(12):1873-1884.

18. Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, et al. Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection. Cell 2018; 172(5):952-965 e918.

19. Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 2002; 32(4):579-581.

20. de Jong SJ, Crequer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, et al. The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to beta-papillomaviruses. J Exp Med 2018; 215(9):2289-2310.

21. Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, et al. Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. Proc Natl Acad Sci U S A 2019; 116(38):19055-19063.

22. Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet 1998; 20(2):129-135.

23. Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006; 444(7115):110-114.

24. Huck K, Feyen O, Niehues T, Ruschendorf F, Hubner N, Laws HJ, et al. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J Clin Invest 2009; 119(5):1350-1358.

25. van Montfrans JM, Hoepelman AI, Otto S, van Gijn M, van de Corput L, de Weger RA, et al. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol 2012; 129(3):787-793 e786.

26. Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, et al. Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. J Exp Med 2017; 214(1):91-106.

27. Izawa K, Martin E, Soudais C, Bruneau J, Boutboul D, Rodriguez R, et al. Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. J Exp Med 2017; 214(1):73-89.

28. Drutman SB, Mansouri D, Mahdaviani SA, Neehus AL, Hum D, Bryk R, et al. Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency. N Engl J Med 2020; 382(5):437-445.

29. Belkaya S, Michailidis E, Korol CB, Kabbani M, Cobat A, Bastard P, et al. Inherited IL-18BP deficiency in human fulminant viral hepatitis. J Exp Med 2019; 216(8):1777-1790.

30. Hernandez N, Bucciol G, Moens L, Le Pen J, Shahrooei M, Goudouris E, et al. Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines. Journal of Experimental Medicine 2019; 216(9):2057-2070.

31. Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, et al. Human IFNAR2 deficiency: Lessons for antiviral immunity. Sci Transl Med 2015; 7(307):307ra154.

32. 32. Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SM, Valappil M, et al. STAT2 deficiency and susceptibility to viral illness in humans. Proc Natl Acad Sci U S A 2013; 110(8):3053-3058.

33. Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, et al. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 2020; 370(6515):eabd4570.

34. Asano T*, Boisson B*, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, et al. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Sci Immunol. 2021;6(62):eabl4348. doi:10.1126/sciimmunol.abl4348

35. Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, et al. Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science 2020; 370(6515):eabd4585.

36. Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, et al. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Sci Immunol. 2021;6(62):eabl4340. doi:10.1126/sciimmunol.abl4340

37. Casanova J, Abel L. Mechanisms of viral inflammation and disease in humans. Science. 2021 Nov 26;374(6571):1080-1086.

COVID-19 References

1. Casanova JL, Su HC; COVID Human Genetic Effort. A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection. Cell. 2020 Jun 11;181(6):1194-1199. doi: 10.1016/j.cell.2020.05.016. Epub 2020 May 13. PMID: 32405102

2. Zhang SY, Zhang Q, Casanova JL, Su HC; COVID Team. Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?. Nature Reviews Immunology. 2020 Aug;20(8):455-456. doi: 10.1038/s41577-020-0373-7. PMID: 32555547

3. Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; NIAID-USUHS/TAGC COVID Immunity Group, Snow AL, Dalgard CL, Milner JD, Vinh DC, Mogensen TH, Marr N, Spaan AN, Boisson B, Boisson-Dupuis S, Bustamante J, Puel A, Ciancanelli MJ, Meyts I, Maniatis T, Soumelis V, Amara A, Nussenzweig M, García-Sastre A, Krammer F, Pujol A, Duffy D, Lifton RP, Zhang SY, Gorochov G, Béziat V, Jouanguy E, Sancho-Shimizu V, Rice CM, Abel L, Notarangelo LD, Cobat A, Su HC, Casanova JL. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. PMID: 32972995

4. Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort, Tsang JS, Goldbach-Mansky R, Kisand K, Lionakis MS, Puel A, Zhang SY, Holland SM, Gorochov G, Jouanguy E, Rice CM, Cobat A, Notarangelo LD, Abel L, Su HC, Casanova JL. Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science. 2020 Oct 23;370(6515):eabd4585. doi: 10.1126/science.abd4585. Epub 2020 Sep 24. PMID: 32972996

5. Toubiana J, Levy C, Allali S, Jung C, Leruez-Ville M, Varon E, Bajolle F, Ouldali N, Chareyre J, Béchet S, Elbez A, Casanova JL, Chalumeau M, Cohen R, Cohen JF. Association between SARS-CoV-2 infection and Kawasaki-like multisystem inflammatory syndrome: a retrospective matched case-control study, Paris, France, April to May 2020. Eurosurveillance. 2020 Dec;25(48):2001813. doi: 10.2807/1560-7917.ES.2020.25.48.2001813. PMID: 33272357

6. Zhang Q, Bastard P, Bolze A, Jouanguy E, Zhang SY; COVID Human Genetic Effort, Cobat A, Notarangelo LD, Su HC, Abel L, Casanova JL. Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation. Med (N Y). 2020 Dec 18;1(1):14-20. doi: 10.1016/j.medj.2020.12.001. PMID: 33363283

7. Lévy R, Bastard P, Lanternier F, Lecuit M, Zhang SY, Casanova JL. IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2. Journal of Clinical Immunology. 2021 Jan;41(1):26-27. doi: 10.1007/s10875-020-00933-0. Epub 2021 Jan 3. PMID: 33392853

8. Onodi F, Bonnet-Madin L, Meertens L, Karpf L, Poirot J, Zhang SY, Picard C, Puel A, Jouanguy E, Zhang Q, Le Goff J, Molina JM, Delaugerre C, Casanova JL, Amara A, Soumelis V. SARS-CoV-2 induces human plasmacytoid pre-dendritic cell diversification via UNC93B and IRAK4. bioRxiv. 2021 Jan 8:2020.07.10.197343. doi: 10.1101/2020.07.10.197343. Preprint. PMID: 33442685

9. Novelli G, Liu J, Biancolella M, Alonzi T, Novelli A, Patten JJ, Cocciadiferro D, Agolini E, Colona VL, Rizzacasa B, Giannini R, Bigio B, Goletti D, Capobianchi MR, Grelli S, Mann J, McKee TD, Cheng K, Amanat F, Krammer F, Guarracino A, Pepe G, Tomino C, Tandjaoui-Lambiotte Y, Uzunhan Y, Tubiana S, Ghosn J; COVID Human Genetic Effort; French COVID Cohort Study Group; CoV-Contact Cohort, Notarangelo LD, Su HC, Abel L, Cobat A, Elhanan G, Grzymski JJ, Latini A, Sidhu SS, Jain S, Davey RA, Casanova JL, Wei W, Pandolfi PP. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death & Disease. 2021 Mar 24;12(4):310. doi: 10.1038/s41419-021-03513-1. PMID: 33762578

10. Toubiana J, Cohen JF, Brice J, Poirault C, Bajolle F, Curtis W, Moulin F, Matczak S, Leruez M, Casanova JL, Chalumeau M, Taylor M, Allali S. Distinctive Features of Kawasaki Disease Following SARS-CoV-2 Infection: a Controlled Study in Paris, France. Journal of Clinical Immunology. 2021 Apr;41(3):526-535. doi: 10.1007/s10875-020-00941-0. Epub 2021 Jan 4. PMID: 33394320

11. de Prost N, Bastard P, Arrestier R, Fourati S, Mahévas M, Burrel S, Dorgham K, Gorochov G, Tandjaoui-Lambiotte Y, Azzaoui I, Fernandes I, Combes A, Casanova JL, Mekontso-Dessap A, Luyt CE. Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia. Journal of Clinical Immunology. 2021 Apr;41(3):536-544. doi: 10.1007/s10875-021-00994-9. Epub 2021 Feb 22. PMID: 33616813

12. Onodi F, Bonnet-Madin L, Meertens L, Karpf L, Poirot J, Zhang SY, Picard C, Puel A, Jouanguy E, Zhang Q, Le Goff J, Molina JM, Delaugerre C, Casanova JL, Amara A, Soumelis V. SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4. Journal of Experimental Medicine. 2021 Apr 5;218(4):e20201387. doi: 10.1084/jem.20201387. PMID: 33533916

13. Bastard P, Michailidis E, Hoffmann HH, Chbihi M, Le Voyer T, Rosain J, Philippot Q, Seeleuthner Y, Gervais A, Materna M, de Oliveira PMN, Maia MLS, Dinis Ano Bom AP, Azamor T, Araújo da Conceição D, Goudouris E, Homma A, Slesak G, Schäfer J, Pulendran B, Miller JD, Huits R, Yang R, Rosen LB, Bizien L, Lorenzo L, Chrabieh M, Erazo LV, Rozenberg F, Jeljeli MM, Béziat V, Holland SM, Cobat A, Notarangelo LD, Su HC, Ahmed R, Puel A, Zhang SY, Abel L, Seligman SJ, Zhang Q, MacDonald MR, Jouanguy E, Rice CM, Casanova JL. Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine. Journal of Experimental Medicine. 2021 Apr 5;218(4):e20202486. doi: 10.1084/jem.20202486. PMID: 33544838

14. Moreews M, Le Gouge K, Khaldi-Plassart S, Pescarmona R, Mathieu AL, Malcus C, Djebali S, Bellomo A, Dauwalder O, Perret M, Villard M, Chopin E, Rouvet I, Vandenesh F, Dupieux C, Pouyau R, Teyssedre S, Guerder M, Louazon T, Moulin-Zinsch A, Duperril M, Patural H, Giovannini-Chami L, Portefaix A, Kassai B, Venet F, Monneret G, Lombard C, Flodrops H, De Guillebon JM, Bajolle F, Launay V, Bastard P, Zhang SY, Dubois V, Thaunat O, Richard JC, Mezidi M, Allatif O, Saker K, Dreux M, Abel L, Casanova JL, Marvel J, Trouillet-Assant S, Klatzmann D, Walzer T, Mariotti-Ferrandiz E, Javouhey E, Belot A. Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children. Science Immunology. 2021 May 25;6(59):eabh1516. doi: 10.1126/sciimmunol.abh1516. PMID: 34035116

15. Rasmussen SA, Abul-Husn NS, Casanova JL, Daly MJ, Rehm HL, Murray MF. The intersection of genetics and COVID-19 in 2021: preview of the 2021 Rodney Howell Symposium. Genetics in Medicine. 2021 Jun;23(6):1001-1003. doi: 10.1038/s41436-021-01113-0. Epub 2021 Mar 12. PMID: 33712732

16. Koning R, Bastard P, Casanova JL, Brouwer MC, van de Beek D; with the Amsterdam U.M.C. COVID-19 Biobank Investigators. Autoantibodies against type I interferons are associated with multi-organ failure in COVID-19 patients. Intensive Care Medicine. 2021 Jun;47(6):704-706. doi: 10.1007/s00134-021-06392-4. Epub 2021 Apr 9. PMID: 33835207

17. Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A; MIS-C CHGE, Tangye SG, Milner JD, Levin M, Abel L, Bogunovic D, Casanova JL, Zhang SY. SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease? Journal of Experimental Medicine. 2021 Jun 7;218(6):e20210446. doi: 10.1084/jem.20210446. PMID: 33904890

18. Bastard P, Zhang Q, Cobat A, Jouanguy E, Zhang SY, Abel L, Casanova JL. Insufficient type I IFN immunity underlies life-threatening COVID-19 pneumonia. Comptes Rendus: Biologies. 2021 Jun 21;344(1):19-25. doi: 10.5802/crbiol.36. PMID: 34213846

19. Bastard P, Lévy R, Henriquez S, Bodemer C, Szwebel TA, Casanova JL. Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2. Journal of Clinical Immunology. 2021 Jul;41(5):931-933. doi: 10.1007/s10875-021-01023-5. Epub 2021 Mar 25. PMID: 33763778

20. Troya J, Bastard P, Planas-Serra L, Ryan P, Ruiz M, de Carranza M, Torres J, Martínez A, Abel L, Casanova JL, Pujol A. Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain. Journal of Clinical Immunology. 2021 Jul;41(5):914-922. doi: 10.1007/s10875-021-01036-0. Epub 2021 Apr 13. PMID: 33851338.

21. Bastard P, Orlova E, Sozaeva L, Lévy R, James A, Schmitt MM, Ochoa S, Kareva M, Rodina Y, Gervais A, Le Voyer T, Rosain J, Philippot Q, Neehus AL, Shaw E, Migaud M, Bizien L, Ekwall O, Berg S, Beccuti G, Ghizzoni L, Thiriez G, Pavot A, Goujard C, Frémond ML, Carter E, Rothenbuhler A, Linglart A, Mignot B, Comte A, Cheikh N, Hermine O, Breivik L, Husebye ES, Humbert S, Rohrlich P, Coaquette A, Vuoto F, Faure K, Mahlaoui N, Kotnik P, Battelino T, Trebušak Podkrajšek K, Kisand K, Ferré EMN, DiMaggio T, Rosen LB, Burbelo PD, McIntyre M, Kann NY, Shcherbina A, Pavlova M, Kolodkina A, Holland SM, Zhang SY, Crow YJ, Notarangelo LD, Su HC, Abel L, Anderson MS, Jouanguy E, Neven B, Puel A, Casanova JL, Lionakis MS. Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. Journal of Experimental Medicine. 2021 Jul 5;218(7):e20210554. doi: 10.1084/jem.20210554. PMID: 33890986

22. Vazquez SE, Bastard P, Kelly K, Gervais A, Norris PJ, Dumont LJ, Casanova JL, Anderson MS, DeRisi JL. Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma. Journal of Clinical Immunology. 2021 Aug;41(6):1169-1171. doi: 10.1007/s10875-021-01060-0. Epub 2021 May 19. PMID: 34009544

23. Zhang Q, Cobat A, Bastard P, Notarangelo LD, Su HC, Abel L, Casanova JL; COVID Human Genetic Effort (CHGE). Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Journal of Clinical Investigation. 2021 Aug 2;131(15):e152474. doi: 10.1172/JCI152474. PMID: 34166232

24. Goncalves D, Mezidi M, Bastard P, Perret M, Saker K, Fabien N, Pescarmona R, Lombard C, Walzer T, Casanova JL, Belot A, Richard JC, Trouillet-Assant S. Antibodies against type I interferon: detection and association with severe clinical outcome in COVID-19 patients. Clinical & Translational Immunology. 2021 Aug 17;10(8):e1327. doi: 10.1002/cti2.1327. eCollection 2021. PMID: 34429968

25. Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino-Neto A, Prando C, Bonradenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S; HGID Lab; COVID Clinicians; COVID-STORM Clinicians; NIAID Immune Response to COVID Group; NH-COVAIR Study Group; Danish CHGE; Danish Blood Donor Study; St. James's Hospital; SARS CoV2 Interest group; French COVID Cohort Study Group; Imagine COVID-Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19; Biobank Investigators; COVID Human Genetic Effort; CONSTANCES cohort; 3C-Dijon Study; Cerba Health-Care; Etablissement du Sang study group, Anderson MS, Boisson B, Béziat V, Zhang SY, Vandreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova JL. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Science Immunology. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340. PMID: 34413139

26. Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort; Amsterdam UMC Covid-; Biobank; NIAID-USUHS COVID Study Group, Bustamante J, Puel A, Boisson-Dupuis S, Zhang SY, Béziat V, Lifton RP, Bastard P, Notarangelo LD, Abel L, Su HC, Jouanguy E, Amara A, Soumelis V, Cobat A, Zhang Q, Casanova JL. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Science Immunology. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. PMID: 34413140

27. de Cevins C, Luka M, Smith N, Meynier S, Magérus A, Carbone F, García-Paredes V, Barnabei L, Batignes M, Boullé A, Stolzenberg MC, Pérot BP, Charbit B, Fali T, Pirabakaran V, Sorin B, Riller Q, Abdessalem G, Beretta M, Grzelak L, Goncalves P, Di Santo JP, Mouquet H, Schwartz O, Zarhrate M, Parisot M, Bole-Feysot C, Masson C, Cagnard N, Corneau A, Brunaud C, Zhang SY, Casanova JL, Bader-Meunier B, Haroche J, Melki I, Lorrot M, Oualha M, Moulin F, Bonnet D, Belhadjer Z, Leruez M, Allali S, Gras-Leguen C, de Pontual L; Pediatric-Biocovid Study Group, Fischer A, Duffy D, Rieux-Laucat F, Toubiana J, Ménager MM. A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis. Med (N Y). 2021 Sep 10;2(9):1072-1092.e7. doi: 10.1016/j.medj.2021.08.002. Epub 2021 Aug 14. PMID: 34414385

28. van der Wijst MGP, Vazquez SE, Hartoularos GC, Bastard P, Grant T, Bueno R, Lee DS, Greenland JR, Sun Y, Perez R, Ogorodnikov A, Ward A, Mann SA, Lynch KL, Yun C, Havlir DV, Chamie G, Marquez C, Greenhouse B, Lionakis MS, Norris PJ, Dumont LJ, Kelly K, Zhang P, Zhang Q, Gervais A, Le Voyer T, Whatley A, Si Y, Byrne A, Combes AJ, Rao AA, Song YS, Fragiadakis GK, Kangelaris K, Calfee CS, Erle DJ, Hendrickson C, Krummel MF, Woodruff PG, Langelier CR, Casanova JL, Derisi JL, Anderson MS, Ye CJ; UCSF COMET consortium. Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19. Science Translational Medicine. 2021 Sep 22;13(612):eabh2624. doi: 10.1126/scitranslmed.abh2624. Epub 2021 Aug 24. PMID: 34429372

29. Nassir N, Tambi R, Bankapur A, Al Heialy S, Karuvantevida N, Khansaheb HH, Zehra B, Begum G, Hameid RA, Ahmed A, Deesi Z, Alkhajeh A, Uddin KMF, Akter H, Safizadeh Shabestari SA, Almidani O, Islam A, Gaudet M, Kandasamy RK, Loney T, Tayoun AA, Nowotny N, Woodbury-Smith M, Rahman P, Kuebler WM, Yaseen Hachim M, Casanova JL, Berdiev BK, Alsheikh-Ali A, Uddin M. Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19. iScience. 2021 Sep 24;24(9):103030. doi: 10.1016/j.isci.2021.103030. Epub 2021 Aug 25. PMID: 34458692

30. Malle L, Bastard P, Martin-Nalda A, Carpenter T, Bush D, Patel R, Colobran R, Soler-Palacin P, Casanova JL, Gans M, Rivière JG, Bogunovic D. Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome. Journal of Clinical Immunology. 2021 Oct;41(7):1457-1462. doi: 10.1007/s10875-021-01078-4. Epub 2021 Jun 5. PMID: 34089457

31. Vinh DC, Abel L, Bastard P, Cheng MP, Condino-Neto A, Gregersen PK, Haerynck F, Cicalese MP, Hagin D, Soler-Palacín P, Planas AM, Pujol A, Notarangelo LD, Zhang Q, Su HC, Casanova JL, Meyts I; COVID Human Genetic Effort. Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β. Journal of Clinical Immunology. 2021 Oct;41(7):1425-1442. doi: 10.1007/s10875-021-01068-6. Epub 2021 Jun 8. PMID: 34101091

32. Abers MS, Rosen LB, Delmonte OM, Shaw E, Bastard P, Imberti L, Quaresima V, Biondi A, Bonfanti P, Castagnoli R, Casanova JL, Su HC, Notarangelo LD, Holland SM, Lionakis MS. Neutralizing type-I interferon autoantibodies are associated with delayed viral clearance and intensive care unit admission in patients with COVID-19. Immunology & Cell Biology. 2021 Oct;99(9):917-921. doi: 10.1111/imcb.12495. Epub 2021 Aug 8. PMID: 34309902

33. Bailly B, Péré H, Veyer D, Berceanu A, Daguindau E, Roux P, Hermine O, de Lamballerie X, Bastard P, Lacombe K, Autran B, Angelot Delettre F, Casanova JL, Imbeaud S, Clairet AL, Kroemer M, Spehner L, Robillard N, Puech J, Marty-Quinternet S, Lepiller Q, Chirouze C, Bouiller K. Persistent COVID-19 in an immunocompromised host treated by SARS-CoV-2-specific monoclonal antibodies. Clinical Infectious Diseases. 2021 Oct 1:ciab868. doi: 10.1093/cid/ciab868. Online ahead of print. PMID: 34598278

34. Chauvineau-Grenier A, Bastard P, Servajean A, Gervais A, Rosain J, Jouanguy E, Cobat A, Casanova JL, Rossi B. Autoantibodies neutralizing type I interferons in 20% of COVID-19 deaths in a French hospital. Research Square. 2021 Oct 1:rs.3.rs-915062. doi: 10.21203/rs.3.rs-915062/v1. Preprint. PMID: 34611657

35. Lopez J, Mommert M, Mouton W, Pizzorno A, Brengel-Pesce K, Mezidi M, Villard M, Lina B, Richard JC, Fassier JB, Cheynet V, Padey B, Duliere V, Julien T, Paul S, Bastard P, Belot A, Bal A, Casanova JL, Rosa-Calatrava M, Morfin F, Walzer T, Trouillet-Assant S. Early nasal type I IFN immunity against SARS-CoV-2 is compromised in patients with autoantibodies against type I IFNs. Journal of Experimental Medicine. 2021 Oct 4;218(10):e20211211. doi: 10.1084/jem.20211211. Epub 2021 Aug 6. PMID: 34357402

36. Lebon P, Gelot A, Zhang SY, Casanova JL, Hauw JJ. Measles Sclerosing Subacute PanEncephalitis (SSPE), an intriguing and ever-present disease: Data, assumptions and new perspectives. Revue Neurologique (Paris). 2021 Nov;177(9):1059-1068. doi: 10.1016/j.neurol.2021.02.387. Epub 2021 Jun 27. PMID: 34187690

37. Solanich X, Rigo-Bonnin R, Gumucio VD, Bastard P, Rosain J, Philippot Q, Perez-Fernandez XL, Fuset-Cabanes MP, Gordillo-Benitez MÁ, Suarez-Cuartin G, Boza-Hernandez E, Riera-Mestre A, Parra-Martínez A, Colobran R, Antolí A, Navarro S, Rocamora-Blanch G, Framil M, Calatayud L, Corbella X, Casanova JL, Morandeira F, Sabater-Riera J. Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona. Journal of Clinical Immunology. 2021 Nov;41(8):1733-1744. doi: 10.1007/s10875-021-01136-x. Epub 2021 Sep 27. PMID: 34570326

38. Lévy R, Zhang P, Bastard P, Dorgham K, Melki I, Hadchouel A, Hartoularos GC, Neven B, Castelle M, Roy C, Toin T, Berteloot L, Bizien L, Abid H, Burgard M, Houhou-Fidouh N, Rozenberg F, Jouanguy E, Ye CJ, Gorochov G, Zhang Q, Casanova JL. Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child. The Proceedings of the National Academy of Sciences. 2021 Nov 9;118(45):e2114390118. doi: 10.1073/pnas.2114390118. PMID: 34702736

39. Arkin LM, Moon JJ, Tran JM, Asgari S, O'Farrelly C, Casanova JL, Cowen EW, Mays JW, Singh AM, Drolet BA; COVID Human Genetic Effort. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio. Journal of Investigative Dermatology. 2021 Dec;141(12):2791-2796. doi: 10.1016/j.jid.2021.05.024. Epub 2021 Jul 15. PMID: 34561087

40. Knight JS, Caricchio R, Casanova JL, Combes AJ, Diamond B, Fox SE, Hanauer DA, James JA, Kanthi Y, Ladd V, Mehta P, Ring AM, Sanz I, Selmi C, Tracy RP, Utz PJ, Wagner CA, Wang JY, McCune WJ. The intersection of COVID-19 and autoimmunity. Journal of Clinical Investigation. 2021 Dec 15;131(24):e154886. doi: 10.1172/JCI154886. PMID: 34710063

41. Abolhassani H, Vosughimotlagh A, Asano T, Landegren N, Boisson B, Delavari S, Bastard P, Aranda-Guillén M, Wang Y, Zuo F, Sardh F, Marcotte H, Du L, Zhang SY, Zhang Q, Rezaei N, Kämpe O, Casanova JL, Hammarström L, Pan-Hammarström Q. X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia. Journal of Clinical Immunology. 2022 Jan;42(1):1-9. doi: 10.1007/s10875-021-01151-y. Epub 2021 Oct 23. PMID: 34686943

42. Manry J, Bastard P, Gervais A, Voyer TL, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen L, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath J, Franco J, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte O, Zhang Y, Snow A, Holland S, Biggs C, Moncada-Vélez M, Arias A, Lorenzo L, Boucherit S, Anglicheau D, Planas A, Haerynck F, Duvlis S, Nussbaum R, Ozcelik T, Keles S, Bousfiha A, Bakkouri JE, Ramirez-Santana C, Paul S, Pan-Hammarstrom Q, Hammarstrom L, Dupont A, Kurolap A, Metz C, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros L, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye S, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann N, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes L, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig M, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer A, Kennelly S, Bourke N, Halwani R, Sharif-Askari F, Dorgham K, Sallette J, Mehlal-Sedkaoui S, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh D, Erikstrup C, Condino-Neto A, Prando C, Bondarenko A, Spaan A, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton R, Mane S, Anderson M, Boisson B, Béziat V, Zhang SY, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, deLamballerie X, Burdet C, Bouadma L, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen P, Rodríguez-Gallego C, Piemonti L, Notarangelo L, Su H, Kisand K, Okada S, Puel A, Jouanguy E, Rice C, Tiberghien P, Zhang Q, Casanova JL, Abel L, Cobat A. The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies. Research Square. 2022 Jan 14:rs.3.rs-1225906. doi: 10.21203/rs.3.rs-1225906/v1. Preprint. PMID: 35043109

43. Carapito R, Li R, Helms J, Carapito C, Gujja S, Rolli V, Guimaraes R, Malagon-Lopez J, Spinnhirny P, Lederle A, Mohseninia R, Hirschler A, Muller L, Bastard P, Gervais A, Zhang Q, Danion F, Ruch Y, Schenck M, Collange O, Chamaraux-Tran TN, Molitor A, Pichot A, Bernard A, Tahar O, Bibi-Triki S, Wu H, Paul N, Mayeur S, Larnicol A, Laumond G, Frappier J, Schmidt S, Hanauer A, Macquin C, Stemmelen T, Simons M, Mariette X, Hermine O, Fafi-Kremer S, Goichot B, Drenou B, Kuteifan K, Pottecher J, Mertes PM, Kailasan S, Aman MJ, Pin E, Nilsson P, Thomas A, Viari A, Sanlaville D, Schneider F, Sibilia J, Tharaux PL, Casanova JL, Hansmann Y, Lidar D, Radosavljevic M, Gulcher JR, Meziani F, Moog C, Chittenden TW, Bahram S. Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort. Science Translational Medicine. 2022 Jan 19;14(628):eabj7521. doi: 10.1126/scitranslmed.abj7521. Epub 2022 Jan 19. PMID: 34698500

44. Chauvineau-Grenier A, Bastard P, Servajean A, Gervais A, Rosain J, Jouanguy E, Cobat A, Casanova JL, Rossi B. Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital. Journal of Clinical Immunology. 2022 Jan 27:1-12. doi: 10.1007/s10875-021-01203-3. Online ahead of print. PMID: 35083626

45. Zhang Q, Bastard P; COVID Human Genetic Effort, Cobat A, Casanova JL. Human genetic and immunological determinants of critical COVID-19 pneumonia. Nature. 2022 Jan 28. doi: 10.1038/s41586-022-04447-0. Online ahead of print. PMID: 35090163 Review.

46. Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, Aranda-Guillén M, Sardh F, Zuo F, Zhang P, Marcotte H, Marr N, Khan T, Ata M, Al-Ali F, Pescarmona R, Belot A, Béziat V, Zhang Q, Casanova JL, Kämpe O, Zhang SY, Hammarström L, Pan-Hammarström Q. Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome. Journal of Clinical Immunology. 2022 Jan 28:1-13. doi: 10.1007/s10875-022-01215-7. Online ahead of print. PMID: 35091979

47. Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O'Farrelly C, Novelli G, Rodríguez-Gallego C, Haerynck F, Prando C, Pujol A; COVID Human Genetic Effort, Su HC, Casanova JL, Spaan AN. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology. 2022 Feb;23(2):159-164. doi: 10.1038/s41590-021-01030-z. Epub 2021 Oct 18. PMID: 34667308 Free PMC article. Review.

48. Aricò E, Bracci L, Castiello L, Urbani F, Casanova JL, Belardelli F. Exploiting natural antiviral immunity for the control of pandemics: Lessons from Covid-19. Cytokine Growth Factor Rev. 2022 Feb;63:23-33. doi: 10.1016/j.cytogfr.2021.12.001. Epub 2021 Dec 16. PMID: 34955389

49. Bastard P, Zhang Q, Zhang SY, Jouanguy E, Casanova JL. Type I interferons and SARS-CoV-2: from cells to organisms. Current Opinion Immunology. 2022 Feb;74:172-182. doi: 10.1016/j.coi.2022.01.003. Epub 2022 Jan 25. PMID: 35149239

50. Hoste L, Roels L, Naesens L, Bosteels V, Vanhee S, Dupont S, Bosteels C, Browaeys R, Vandamme N, Verstaen K, Roels J, Van Damme KFA, Maes B, De Leeuw E, Declercq J, Aegerter H, Seys L, Smole U, De Prijck S, Vanheerswynghels M, Claes K, Debacker V, Van Isterdael G, Backers L, Claes KBM, Bastard P, Jouanguy E, Zhang SY, Mets G, Dehoorne J, Vandekerckhove K, Schelstraete P, Willems J; MIS-C Clinicians, Stordeur P, Janssens S, Beyaert R, Saeys Y, Casanova JL, Lambrecht BN, Haerynck F, Tavernier SJ. TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C. Journal of Experimental Medicine. 2022 Feb 7;219(2):e20211381. doi: 10.1084/jem.20211381. Epub 2021 Dec 16. PMID: 34914824

51. Troya J, Bastard P, Casanova JL, Abel L, Pujol A. Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality. Journal of Clinical Immunology. 2022 Mar 3:1-4. doi: 10.1007/s10875-022-01241-5. Online ahead of print. PMID: 35243564

52. David A, Parkinson N, Peacock TP, Pairo-Castineira E, Khanna T, Cobat A, Tenesa A, Sancho-Shimizu V; GenOMICC Consortium; ISARIC4C Investigators, Casanova JL, Abel L, Barclay WS, Baillie JK, Sternberg MJ. A common TMPRSS2 variant has a protective effect against severe COVID-19. Current Research in Translational Medicine. 2022 May;70(2):103333. doi: 10.1016/j.retram.2022.103333. Epub 2022 Jan 10. PMID: 35104687

53. Brodin P, Casari G, Townsend L, O’Farrlley O, Tancevski I, Löffler-Ragg J, Mogensen TH, Casanova JL; COVID Human Genetic Effort. Studying severe LongCOVID to understand post-infectious disorders beyond COVID-19. Nature Medicine. 2022; in press.

54. Puel A, Bustamante J, Bastard P, Casanova JL. Human autoantibodies underlying infectious diseases. Journal of Experimental Medicine. 2022; in press.