During the year 2022 the activity of our research group combined the classical research lines with the research on the COVID-19 pandemics: In COVID-19 we participated in different studies addressing several aspects of the host in COVID-19: (1) Genetic factors: identification of genetic factors underlying critical COVID-19. (2) Immunological factors: expanding the role of autoantibodies neutralizing type I IFNs in COVID-19. (3) Immune response: Stratification of hospitalized COVID-19 patients into clinical severity progression groups by immuno-phenotyping and machine learning. Beyond COVID-19, our group has been working on our main research lines: (1) Genetics of inborn errors of immunity (IEI): Detection and evolutionary dynamics of somatic FAS variants in ALPS. Expanding the genetic basis of other IEI like SASH3 deficiency or VEXAS syndrome. (2) Autoimmunity: Studies in both in organ-specific (thyroid) and non-organ-specific (Sjögren\’s syndrome, systemic sclerosis and myositis).

Group Leader
Roger Colobran Oriol

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

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

PhD Students
Maria Teresa Sanz Martínez, Janire Perurena Prieto, Iria Arrese Muñoz, Laith Moushib.

Lab Technicians
Aina Aguiló Cucurull, Sandra Salgado Perandrés.

23

PUBLICATIONS

87.0%

%Q1

295

IMPACT FACTOR

12.81

AVERAGE IMPACT FACTOR

SELECTED ARTICLES

Batlle-Masó L, Garcia-Prat M, Parra-Martínez A, Franco-Jarava C, Aguiló-Cucurull A, Velasco P, Antolín M, Rivière JG, Martín-Nalda A, Soler-Palacín P, Martínez-Gallo M, Colobran R.
Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
Front Immunol. 2022 Nov 18;13:1014984.
DOI: doi: 10.3389/fimmu.2022.1014984
IF: 8.79

Álvarez-Sierra D, Marín-Sánchez A, Gómez-Brey A, Bello I, Caubet E, Moreno-Llorente P, Petit A, Zafón C, Iglesias C, González Ó, Pujol-Borrell R.
Lymphocytic Thyroiditis Transcriptomic Profiles Support the Role of Checkpoint Pathways and B Cells in Pathogenesis.
Thyroid. 2022 Jun;32(6):682-693.
DOI: doi: 10.1089/thy.2021.0694.
IF: 6.51

Mueller YM, Schrama TJ, Ruijten R, Schreurs MWJ, Grashof DGB, van de Werken HJG, Lasinio GJ, Álvarez-Sierra D, Kiernan CH, Castro Eiro MD, van Meurs M, Brouwers-Haspels I, Zhao M, Li L, de Wit H, Ouzounis CA, Wilmsen MEP, Alofs TM, Laport DA, van Wees T, Kraker G, Jaimes MC, Van Bockstael S, Hernández-González M, Rokx C, Rijnders BJA, Pujol-Borrell R, Katsikis PD.
Stratification of hospitalized COVID-19 patients into clinical severity progression groups by immuno-phenotyping and machine learning.
Nat Commun. 2022 Feb 17;13(1):915.
DOI: doi: 10.1038/s41467-022-28621-0.
IF: 17.69

Manry J, Bastard P, Gervais A, Le Voyer T, 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 LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane 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 CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, 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 FS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Erikstrup C, Condino-Neto A, Prando C, Bondarenko 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; CP-COVID-19 Group; CONSTANCES cohort; 3C-Dijon Study; Cerba Health-Care; Etablissement Français du Sang Study group, Anderson MS, Boisson B, Béziat V, Zhang SY, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie 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 PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, 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.
Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2200413119.
DOI: doi: 10.1073/pnas.2200413119.
IF: 12.78

Labrador-Horrillo M, Franco-Jarava C, Garcia-Prat M, Parra-Martínez A, Antolín M, Salgado-Perandrés S, Aguiló-Cucurull A, Martinez-Gallo M, Colobran R.
X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Front Immunol. 2022 Apr 8;13:881206.
DOI: doi: 10.3389/fimmu.2022.881206
IF: 8.79

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). Ref PI20/00761
Funding: 159,720 €
Period: 2021-2023

Transcriptomic, epigenetic and functional characterization of patients with secondary hemophagocytic syndrome
Principal Investigator: Mónica Martínez Gallo
Agency: Instituto de Salud Carlos III (ISCIII). Ref PI18/0405
Funding: 117,000 €
Period: 2019-2022

The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine (UNDINE)
Principal Investigator: Trine Morgensen (coordinator)
Agency: European Commission (HORIZON-HLTH-2021-DISEASE-04). Proposal number: 101057100
Funding: 6,926,262 €
Period: 2022-2026

Stem-cell based gene therapy for recombination-deficient SCID (RECOMB)
Principal Investigator: Frank J.T. Staal (coordinator)
Agency: European Commission (H2020). Proposal number: 755170
Funding: 5,990,460 €
Period: 2017-2022