During the year 2021 the activity of our research group has been still strongly influenced by the COVID-19 pandemics. We participated in different studies addressing several aspects of the host in COVID-19: (1) Genetic factors: identification of TLR7 deficiency causing severe COVID-19 in men. (2) Immunological factors: expanding the role of autoantibodies neutralizing type I IFNs in COVID-19. (3) Immune response: characterization of peripheral and lung resident memory T cell responses against SARS-CoV-2. Beyond COVID-19, our group has been working on our main research lines: (1) Genetics of primary immunodeficiencies: we participated in the identification of TLR3 and MDA5 deficiency in children with enterovirus rhombencephalitis; we lead two studies about molecular aspects of HLH and Hediak-Higashi syndrome. (2) Autoimmunity: both in organ-specific (thyroid) and non-organ-specific (Sjgren\'s syndrome, systemic sclerosis and myositis).

Group Leader
Roger Colobran Oriol

Principal Investigator (PI)
Ricardo Pujol Borrell, Mónica Martínez Gallo, Clara Franco Jarava, Roger Colobran Oriol.

Researchers
Manuel Hernández González, Daniel Álvarez de la Sierra, Laura Viñas Giménez, Maria Teresa Sanz Martínez, Romina Dieli Crimi.

PhD Students
Janire Perurena Prieto, Iria Arrese Muñoz.

Lab Technicians
Aina Aguiló Cucurull, Sandra Salgado Perandrés.

27

PUBLICATIONS

240

IMPACT FACTOR

8.90

AVERAGE IMPACT FACTOR

SELECTED ARTICLES

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.
Sci Immunol. 2021 Aug 19;6(62):eabl4348.
DOI: doi: 10.1126/sciimmunol.abl4348.
IF: 17.73

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.
Sci Immunol. 2021 Aug 19;6(62):eabl4340.
DOI: doi: 10.1126/sciimmunol.abl4340.
IF: 17.73

Grau-Expósito J, Sánchez-Gaona N, Massana N, Suppi M, Astorga-Gamaza A, Perea D, Rosado J, Falcó A, Kirkegaard C, Torrella A, Planas B, Navarro J, Suanzes P, Álvarez-Sierra D, Ayora A, Sansano I, Esperalba J, Andrés C, Antón A, Ramón Y Cajal S, Almirante B, Pujol-Borrell R, Falcó V, Burgos J, Buzón MJ, Genescà M.
Peripheral and lung resident memory T cell responses against SARS-CoV-2.
Nat Commun. 2021 May 21;12(1):3010.
DOI: doi: 10.1038/s41467-021-23333-3.
IF: 14.92

Chen J, Jing H, Martin-Nalda A, Bastard P, Rivière JG, Liu Z, Colobran R, Lee D, Tung W, Manry J, Hasek M, Boucherit S, Lorenzo L, Rozenberg F, Aubart M, Abel L, Su HC, Soler Palacin P, Casanova JL, Zhang SY.
Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.
J Exp Med. 2021 Dec 6;218(12):e20211349.
DOI: doi: 10.1084/jem.20211349.
IF: 14.31

Català-Moll F, Ferreté-Bonastre AG, Li T, Weichenhan D, Lutsik P, Ciudad L, Álvarez-Prado ÁF, Rodríguez-Ubreva J, Klemann C, Speckmann C, Vilas-Zornoza A, Abolhassani H, Martínez-Gallo M, Dieli-Crimi R, Rivière JG, Martín-Nalda A, Colobran R, Soler-Palacín P, Kracker S, Hammarström L, Prosper F, Durandy A, Grimbacher B, Plass C, Ballestar E.
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction.
Nucleic Acids Res. 2021 May 21;49(9):5057-5073.
DOI: doi: 10.1093/nar/gkab322
IF: 16.97

Transcriptomic, epigenetic and functional characterization of patients with secondary hemophagocytic syndrome.
Principal Investigator: Mónica Martínez Gallo
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 117,000 €
Period: 2018-2023

Integrating genome and transcriptome profiling for the identification of novel genetic basis of primary immunodeficiencies.
Principal Investigator: Roger Colobran
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 159,720 €
Period: 2020-2023

Identification and functional characterization of new genetic variants responsible for the hemophagocytic syndrome: Application to the diagnosis and treatment of the disease
Principal Investigator: Roger Colobran
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 171,820 €
Period: 2017-2021

COVID-19, perfil inmunológico de riesgo
Principal Investigator: Ricardo Pujol Borrell
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 229,000 €
Period: 2020-2021

Negative Immune checkpoint receptors in thyroid autoimmunity
Principal Investigator: Ricardo Pujol Borrell
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 183,194 €
Period: 2017-2022