Batlle-Masó L, Padrosa Pulido J, Esteve-Codina A, Perurena-Prieto J, Franco-Jarava C, Aguiló-Cucurull A, Martínez-Gallo M, Cea C, Rodriguez-Aliberas M, Soler-Palacín P, Casals F, Redondo Velao S, Torrent M, Alsina L, Colobran R
Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement
NPJ Genomic Medicine. 2025 Nov 28;10(1):78
DOI: 10.1038/s41525-025-00535-y
IF: 4.8
RESEARCH GROUPS
Translational Immunology
12
Number of publications
75.00
%
% Q1
25.00
%
% D1
83.33
%
% Leadership
40.00
%
% Female Leadership
2.28
CROWN (2021-2025)
27.47
%
HCP10% (2021-2025)
100.00
%
% Open access
25.00
%
% International Collaboration
3
Highly cited papers / HCP 1% (2021-2025)
3
Publications in high-IF journals with high Altmetric scores
4
Number of Ongoing Projectes (total)
0
International ongoing projects
1
Number of New projects (total)
0
International new projects
0
Number of Active clinical Trials
0
Number of New Clinical Trials
0
Number of Theses
In 2025, Translational Immunology Group at VHIR advanced its research across three main areas. First, we expanded the molecular basis of inborn errors of immunity through studies on genetic susceptibility to viral infections, the first description of somatic reversion in CD137 deficiency, the identification of gonosomal mosaicism in hereditary angioedema, and collaborative approaches to diagnosing rare diseases. Second, in autoimmunity and immune-mediated diseases, we investigated immune dysregulation, inflammatory biomarkers, vaccine responses, biologic drug monitoring, and pharmacokinetics in conditions such as systemic sclerosis, inflammatory bowel disease, glomerular diseases, and allergy. Third, in transplantation, we contributed to improving immune monitoring and clinical stratification by studying antinuclear antibodies after lung transplantation, endothelial dysfunction in kidney donors and recipients, and prognostic cell-mediated immunity scores for cytomegalovirus infection.
CORE/MISSIONS
- Innovative & Advanced Therapies
- Rare Diseases
PROGRAMS
TEAM
Group Leader
Roger Colobran
Principal Investigator (PI)
Roger Colobran, Mónica Martínez Gallo
Researchers
Laura Batlle Masó, Janire Perurena Prieto, Manuel Hernández González, Laura Viñas Giménez, Romina Dieli Crimi, Maria Teresa Sanz Martínez, Blanca Urban, Sergi Cantenys
Lab Technicians
Aina Aguiló Cucurull
SELECTED PUBLICATIONS
Batlle-Masó L, Perurena-Prieto J, Viñas-Giménez L, Aguiló-Cucurull A, Fernández-Álvarez P, Gil-Serrano J, Guilarte M, Colobran R
De Novo or Inherited: Gonosomal Mosaicism in Hereditary Angioedema due to C1 Inhibitor Deficiency
Frontiers Immunology. 2025 Feb 6;16:1550380
DOI: 10.3389/fimmu.2025.1550380
IF: 5.7
Gutzeit C, Grasset EK, Matthews DB, Maglione PJ, Britton GJ, Miller H, Magri G, Tomalin L, Stapylton M, Canales-Herrerias P, Sominskaia M, Guzman M, Pybus M, Tejedor Vaquero S, Radigan L, Tachó-Piñot R, Martín Nalda A, García Prat M, Martinez Gallo M, Dieli-Crimi R, Clemente JC, Mehandru S, Suarez-Farinas M, Faith JJ, Cunningham-Rundles C, Cerutti A
Gut IgA functionally interacts with systemic IgG to enhance antipneumococcal vaccine responses
Sci Adv. 2025 Feb 14;11(7):eado9455
DOI: 10.1126/sciadv.ado9455
IF: 12.5
Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B; Solve-RD DITF-EPICARE; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RITA; Solve-RD DITF-RND; Solve-RD consortium; T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J, Graessner H
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Nat Genet. 2025 Oct;57(10):2361-2370
DOI: 10.1038/s41588-025-02290-3
IF: 29
Kervella D, Casanova-Ferrer F, Kotton CN, Donadeu L, Kumar D, Pineda S, Crespo E, Meneghini M, González-Costelo J, García-Romero E, Lladó L, Cachero A, Melilli E, Torres IB, Martínez-Lacalle A, Castañeda Z, Martinez-Gallo M, Len O, Los-Arcos I, Trilla-Herrera E, Miret E, Giral M, Brouard S, Girardin FR, Villard J, Budde K, Lefaucheur C, Loupy A, Moreso F, Bestard O
A New Prognostic Score Based on Cell-Mediated Immunity for Cytomegalovirus Infection After Transplantation
Kidney Int Rep. 2025 Jul 8;10(9):3044-3057
DOI: 10.1016/j.ekir.2025.06.056
IF: 5.7
SELECTED PROJECTS
Identification and functional characterization of structural genetic variants in patients with inborn errors of immunity
Principal Investigator: Roger Colobran
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 208,750€
Period: 2024-2026
Identification and functional characterization of genetic variants associated to specific clinical phenotypes in hereditary angioedema due to C1 inhibitor deficiency: an unbiased approach
Principal Investigator: Roger Colobran
Agency: Takeda Pharmaceutical
Funding: 280,740€
Period: 2022-2026
The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine (UNDINE)
Principal Investigator: Trine Morgensen
Agency: European Commission (HORIZON-HLTH-2021-DISEASE-04)
Funding: 6,926,262 €
Period: 2022-2026
Estudio de expresión de antígenos en tejido tumoral de pacientes con Esclerosis Sistémica
Principal Investigator: Alfredo Guillén del Castillo
Agency: Instituto de Salud Carlos III (ISCIII)
Funding: 75,020 €
Period: 2023-2025
The interplay between Inborn Error of Immunity and blood disorders: unravelling immune defects behind common haematological diseases
Principal Investigator: Pere Soler Palacín
Agency: Proyectos de colaboración internacional AES 2021-2023
Funding: 179,993.75 €
Period: 2024-2026
PATENTS
DISSEMINATION ACTIVITIES
Vídeo Podcasts – Diálogos Angioedema
Place: On-line (vídeo podcast)
Date: September 2025
Brief: Dr. Roger Colobran participated in a video podcast about Genetics of Hereditary Angioedema for patients and professionals. This podcast was organized by campusfarmacosalud.com and sponsored by Otsuka
27 reunión anual de la Asociación Española de Angioedema Familiar
Place: Hospital Universitari Vall d’Hebron
Date: 08/03/2025
Brief: Roger Colobran participated in a patient association meeting, where he explained the genetics of hereditary angioedema
International Day of Women and Girls in Science
Place: Institut Narcís Xifra (Girona)
Date: 11/02/2025
Brief: Dr. Laura Batlle-Masó gave a talk to clinical and biomedical laboratory students at Institut Narcís Xifra in Girona as part of the International Day of Women and Girls in Science. This initiative helped highlight the important role of women in science and promote scientific vocations among young students.
