- Expanding the molecular basis of inborn errors of immunity (IEI). We finished and published a relevant work about the role of skewed X-chromosome inactivation in common variable immunodeficiency (CVID) (very important in terms of gender perspective) (PMID: 38265673). We also described for the first time that the haploinsufficiency of TRAF3 gene cause CVID (PMID: 39579173). We also reported that OTULIN haploinsufficiency causes hyperinflammatory responses to infectious and non-infectious triggers (PMID: 38578307).
- Immune tolerance and autoimmune diseases. We developed a new method to improve diagnosis and classification of patients with scleroderma. This new technology (RNA immunoprecipitation coupled with massive RNA sequencing, RIP-Seq) allows more sensitive detection of scleroderma patients’ autoantibodies, which are related to the severity and progression of the disease (PMID: 39500147).
eCORE
- Personalized Medicine, Innovative Diagnostics, Molecular Imaging & Digital Health
- Woman & Child Health & Rare Diseases
Team
Group Leader
Roger Colobran Oriol
Principal Investigator (PI)
Roger Colobran Oriol, Clara Franco Jarava
Researchers
Manuel Hernández González, Mónica Martínez Gallo, Laura Viñas Giménez, Romina Dieli Crimi
PhD Students
Maria Teresa Sanz Martínez, Janire Perurena Prieto, Blanca Urban, Laith Moushib.
Lab Technicians
Aina Aguiló Cucurull, Sandra Salgado Perandrés
Selected Publications
Urban B, Batlle-Masó L, Perurena-Prieto J, Garcia-Prat M, Parra-Martínez A, Aguiló-Cucurull A, Martinez-Gallo M, Moushib L, Antolín M, Rivière JG, Soler-Palacin P, Dieli-Crimi R, Franco-Jarava C, Colobran R
Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency
J Clin Immunol. 2024 Nov 23;45(1):47
DOI: 10.1007/s10875-024-01833-3
IF: 7.2
Garcia-Prat M, Batlle-Masó L, Parra-Martínez A, Franco-Jarava C, Martinez-Gallo M, Aguiló-Cucurull A, Perurena-Prieto J, Castells N, Urban B, Dieli-Crimi R, Soler-Palacín P, Colobran R
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
J Clin Immunol. 2024 Jan 24;44(2):54
DOI: 10.1007/s10875-024-01659-z
IF: 7.2
Perurena-Prieto J, Sanz-Martínez MT, Viñas-Giménez L, Codina-Clavaguera C, Triginer L, Gordillo-González F, Andrés-León E, Batlle-Masó L, Martin J, Selva-O'Callaghan A, Pujol R, McHugh NJ, Tansley SL, Colobran R, Guillen-Del-Castillo A, Simeón-Aznar CP
Expanding the landscape of systemic sclerosis-related autoantibodies through RNA immunoprecipitation coupled with massive parallel sequencing
J Autoimmun. 2024 Dec;149:103328
DOI: 10.1016/j.jaut.2024.103328
IF: 7.9
Perurena-Prieto J, Callejas-Moraga EL, Sanz-Martínez MT, Colobran R, Guillén-Del-Castillo A, Simeón-Aznar CP
Prognostic value of anti-IFI16 autoantibodies in pulmonary arterial hypertension and mortality in patients with systemic sclerosis.
Med Clin (Barc). 2024 Apr 26;162(8):370-377
DOI: 10.1016/j.medcli.2023.11.020
IF: 2.6
Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet-Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A, Casanova JL
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
J Exp Med. 2024 Feb 5;221(2):e20231353
DOI: 10.1084/jem.20231353
IF: 12.8
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). Ref PI23/00161
Funding: 208,750 €
Period: 2024-2026
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: 2021-2025
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: 2022-2025
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). Ref PI22/01804
Funding: 75,020 €
Period: 2023-2025
Selected Dissemination Activities
Podcast - Genetic testing in HAE: Behind the scenes
Place: On-line (Podcast)
Date: 01/01/1970
Brief: Dr. Roger Colobran participated in a Podcast about Genetics of Hereditary Angioedema for patients. This podcast was organized by GALEN (Global Allergy and Asthma Excellence Network).
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Webinar - Pedigrees in Hereditary Angioedema
Place: On-line (webinar)
Date: 01/01/1970
Brief: Roger Colobran participated in a webinar organized by the Global Allergy & Allergy Excellence Network (GALEN) for the education of patients and non-specialized physicians.
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