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Translational Immunology

The main objectives are to improve the diagnosis of immunodeficiencies and autoimmune diseases, addressing also their heterogeneity and mechanisms in close collaboration with the pediatrics, thyroid and systemic disease groups, being internationally recognized in both areas. The group participates in numerous research projects at the Vall d'Hebron Barcelona Hospital Campus that use immunological tests developed for specific projects led by the kidney transplantation, intensive care medicine, internal medicine, allergy and rheumatology groups. During the COVID pandemic the group made contributions in improving the immunogenetic and immunological risk profiles and in the evaluation of the immune response to vaccination and natural infection, collaborating with national and international networks. The group has also generated a biobank of more than 8.000 samples from patients with COVID-19 that have been incorporated into the VHIR biobank.

The group works as a coordinator of the "Focis" Center of Excellence (Federation of Clinical Immunology Societies) of Barcelona.

Team

Roger Colobran Oriol

Roger Colobran Oriol

Head of group
Translational Immunology
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Ingrid Johana Gil Serrano

Ingrid Johana Gil Serrano

Main researcher
Translational Immunology
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Manuel Hernández González

Manuel Hernández González

Translational Immunology
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Mónica Martínez Gallo

Mónica Martínez Gallo

Main researcher
Translational Immunology
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Laura Viñas Gimenez

Laura Viñas Gimenez

Translational Immunology
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Maria Teresa  Sanz Martinez

Maria Teresa Sanz Martinez

Predoctoral researcher
Translational Immunology
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Roger Colobran Oriol

Roger Colobran Oriol

Head of group
Translational Immunology
Read more
Ingrid Johana Gil Serrano

Ingrid Johana Gil Serrano

Main researcher
Translational Immunology
Read more
Manuel Hernández González

Manuel Hernández González

Translational Immunology
Read more
Mónica Martínez Gallo

Mónica Martínez Gallo

Main researcher
Translational Immunology
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Laura Viñas Gimenez

Laura Viñas Gimenez

Translational Immunology
Read more
Maria Teresa  Sanz Martinez

Maria Teresa Sanz Martinez

Predoctoral researcher
Translational Immunology
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Research lines

Genetics and immunological factors in COViD-19

Determinants of severity in COVID-19 are still poorly understood but are suspected to be predominantly host factors. Besides age, sex and previous comorbidities, we investigate two other general host factors:


1-Genetic variants causing life-threatening COVID-19: We are mostly focused in genetics of immune system. This research line is under the COVIDHGE consortium.


2-The state of the immune system seems to be an important factor but the immunotypes of risk have not yet been clearly defined. The aim of this line of research is to identify the immune mechanisms that determine the severity of SARS-CoV-2 infection in order to propose and validate biomarkers of prognosis and therapeutic requirements.

IP: Manuel Hernández González, Roger Colobran Oriol, Romina Dieli Crimi, Mónica Martínez Gallo

Immune tolerance and autoimmune disease

1.1  Analysis of central tolerance (thymic) to thyrotropin receptor in Graves' disease.

1.2  Biomarkers of therapeutic response to in Graves' disease

1.3. Explore the use of system biology tools for the identification of new biomarkers in autoimmune diseases


This line is being developed in collaboration with the Endocrinology and Pediatric Heart Surgery groups of HUVH and also with Endocrinology group of Hospital Universitari Germans Trias i Pujol.

IP: Roger Colobran Oriol

Primary Immunodeficiencies

Our group is focused in the cellular and molecular mechanisms of primary immunodeficiencies (PIDs). Our specific projects include:


1-Expanding the genetic and molecular basis of Primary Immunodeficiencies using high-throughput Technologies.


2-Cellular and molecular basis of hemophagocytic lymphohistiocytosis (HLH).


3-Cellular and molecular basis of common variable immunodeficiency (CVID).



PI: Dr. Roger Colobran


PI: Dr. Mónica Martínez-Gallo


PI: Dr. Clara Franco-Jarava



This line is developed in collaboration with the group of "Infection in the immunocompromised pediatric patient" (Head: Dr. Pere Soler-Palacín).

IP: Mónica Martínez Gallo, Manuel Hernández González, Roger Colobran Oriol

Projects

Desarrollo de tests rápidos intercambiables para el control multifacético de las infecciones respiratorias

IP: Eva Baldrich Rubio
Collaborators: Romina Dieli Crimi, Cristina Andrés Vergés
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 141875
Reference: PID2023-148950OB-C22
Duration: 01/09/2024 - 31/12/2027

Ministerio de Ciencia

La interacción entre el error innato de la inmunidad y los trastornos sanguíneos: desentrañando los defectos inmunitarios detrás de las enfermedades hematológicas comunes

IP: Pere Soler Palacín
Collaborators: Laura Batlle Masó, Maria Cristina Díaz de Heredia Rubio, Roger Colobran Oriol, Thaïs Murciano Carrillo, Constantino Sábado Álvarez, Miriam Gonzalez Amores, Janire Perurena Prieto, Andrea Martín Nalda, Lucas Moreno Martín-Retortillo, Jacques Gabriel Rivière
Funding agency: Instituto de Salud Carlos III
Funding: 179993.75
Reference: AC23_2/00033
Duration: 01/01/2024 - 31/12/2026

Identification and functional characterization of structural variants in patients with inborn errors of immunity

IP: Roger Colobran Oriol
Collaborators: Romina Dieli Crimi, Aina Aguiló Cucurull, Laura Batlle Masó, Andrea Martín Nalda, Neus Castells Sarret
Funding agency: Instituto de Salud Carlos III
Funding: 208750
Reference: PI23/00161
Duration: 01/01/2024 - 31/12/2026

Optimización del test de deposición ex vivo de C5b9 para monitorizar la actividad y la respuesta al tratamiento en SHUa y otras glomerulopatías complejas

IP: Concepció Jacobs Cachá
Collaborators: Manuel Hernández González, Natalia Ramos Terrades, Joana Sellarés Roig, Carmen Llorens Cebriá, Janire Perurena Prieto
Funding agency: Sociedad Española de Nefrología (S.E.N.)
Funding: 24000
Reference: SENEFRO/PROJECTES/2023/JACOBS
Duration: 23/12/2023 - 22/12/2025

Publications

The immune response to SARS-CoV-2 in COVID-19 as a recall response susceptible to immune imprinting: A prospective cohort study.

PMID: 39842683
Journal: CLINICAL IMMUNOLOGY
Year: 2025
Reference: Clin Immunol. 2025 Jan 20:110429. doi: 10.1016/j.clim.2025.110429.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez-Sierra, Daniel; Alzayat, Hammad; Bas-Minguet, Jordi; Colobran, Roger; Espinosa-Pereiro, Juan; Fernandez-Sanmartin, Marco; Hernandez-Gonzalez, Manuel; Katsikis, Peter D; Martinez-Caceres, Eva; Martinez-Gallo, Monica et al.
DOI: 10.1016/j.clim.2025.110429

Gut IgA functionally interacts with systemic IgG to enhance antipneumococcal vaccine responses.

PMID: 39937896
Journal: Science Advances
Year: 2025
Reference: Sci Adv. 2025 Feb 14;11(7):eado9455. doi: 10.1126/sciadv.ado9455. Epub 2025 Feb 12.
Impact factor:
Publication type: Paper in international publication
Authors: Britton, Graham J; Canales-Herrerias, Pablo; Cerutti, Andrea; Clemente, Jose C; Cunningham-Rundles, Charlotte; Dieli-Crimi, Romina; Faith, Jeremiah J; Garcia Prat, Marina; Grasset, Emilie K; Gutzeit, Cindy et al.
DOI: 10.1126/sciadv.ado9455

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency.

PMID: 39981253
Journal: Frontiers in Immunology
Year: 2025
Reference: Front Immunol. 2025 Feb 6;16:1550380. doi: 10.3389/fimmu.2025.1550380. eCollection 2025.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilo-Cucurull, Aina; Batlle-Maso, Laura; Colobran, Roger; Fernandez-Alvarez, Paula; Gil-Serrano, Johana; Guilarte, Mar; Perurena-Prieto, Janire; Vinas-Gimenez, Laura et al.
DOI: 10.3389/fimmu.2025.1550380

Anaphylaxis Induced by Milk Thistle (Silybum marianum) Seed Ingestion: A Case Report.

PMID: 40036083
Journal: JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY
Year: 2025
Reference: J Investig Allergol Clin Immunol. 2025 Mar 4:0. doi: 10.18176/jiaci.1057.
Impact factor:
Publication type: Paper in international publication
Authors: Cardona, V; Castillo Fernandez, M; Galvan-Blasco, P; Gil-Serrano, J; Guilarte, M; Labrador-Horrillo, M; Luengo, O; Planas-Vinos, M; Sala-Cunill, A et al.
DOI: 10.18176/jiaci.1057

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

PMID: 38265673
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2024
Reference: J Clin Immunol. 2024 Jan 24;44(2):54. doi: 10.1007/s10875-024-01659-z.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilo-Cucurull, Aina; Batlle-Maso, Laura; Castells, Neus; Colobran, Roger; Dieli-Crimi, Romina; Franco-Jarava, Clara; Garcia-Prat, Marina; Martinez-Gallo, Monica; Parra-Martinez, Alba; Perurena-Prieto, Janire et al.
DOI: 10.1007/s10875-024-01659-z

Prognostic value of anti-IFI16 autoantibodies in pulmonary arterial hypertension and mortality in patients with systemic sclerosis.

PMID: 38302398
Journal: MEDICINA CLINICA
Year: 2024
Reference: Med Clin (Barc). 2024 Jan 31:S0025-7753(23)00754-6. doi: 10.1016/j.medcli.2023.11.020.
Impact factor:
Publication type: Paper in international publication
Authors: Callejas-Moraga, Eduardo L; Colobran, Roger; Guillen-Del-Castillo, Alfredo; Perurena-Prieto, Janire; Sanz-Martinez, Maria T; Simeon-Aznar, Carmen P et al.
DOI: 10.1016/j.medcli.2023.11.020

An algorithm based on immunotherapy discontinuation and liver biopsy spares corticosteroids in two thirds of cases of severe checkpoint inhibitor-induced liver injury.

PMID: 38327102
Journal: ALIMENTARY PHARMACOLOGY & THERAPEUTICS
Year: 2024
Reference: Aliment Pharmacol Ther. 2024 Feb 7. doi: 10.1111/apt.17898.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilar-Company, Juan; Barreira-Diaz, Ana; Buti, Maria; Callejo-Perez, Ana; Cedres, Susana; Diaz-Mejia, Nely; Felip, Enriqueta; Iranzo, Patricia; Martinez-Gallo, Monica; Morales, Rafael et al.
DOI: 10.1111/apt.17898

Catastrophic Streptococcus pyogenes Disease: A Personalized Approach Based on Phenotypes and Treatable Traits.

PMID: 38391573
Journal: Antibiotics-Basel
Year: 2024
Reference: Antibiotics (Basel). 2024 Feb 15;13(2):187. doi: 10.3390/antibiotics13020187.
Impact factor:
Publication type: Paper in international publication
Authors: Bajana, Ivan; Bastidas, Juliana; Chiscano-Camon, Luis; Ferrer, Ricard; Franco-Jarava, Clara; Gonzalez-Lopez, Juan Jose; Larrosa, Nieves; Lopez-Martinez, Rocio; Maldonado, Carolina; Martin, Laura et al.
DOI: 10.3390/antibiotics13020187

Thyroid cells from normal and autoimmune thyroid glands suppress T lymphocytes proliferation upon contact revealing a new regulatory inhibitory type of interaction independent of PD1/PDL1.

PMID: 36857863
Journal: JOURNAL OF AUTOIMMUNITY
Year: 2023
Reference: J Autoimmun. 2023 Apr;136:103013. doi: 10.1016/j.jaut.2023.103013. Epub 2023 Feb 27.
Impact factor:
Publication type: Paper in international publication
Authors: Abad, Maria; Alvarez-Sierra, Daniel; Bello, Irene; Caubet, Enric; Cruz Cobo, Maria; Cruz Cobo, Maria; Escriche, Alba; Escriche, Alba; Fernandez-Sanmartin, Marco Antonio; Gomez-Brey, Aroa et al.
DOI: 10.1016/j.jaut.2023.103013

Kinetics of cellular and humoral immunogenicity and effectiveness of SARS-CoV-2 booster vaccination in hematologic neoplasms.

PMID: 37151135
Journal: AMERICAN JOURNAL OF HEMATOLOGY
Year: 2023
Reference: Am J Hematol. 2023 May 8. doi: 10.1002/ajh.26951.
Impact factor:
Publication type: Paper in international publication
Authors: Abrisqueta, Pau; Andres, Cristina; Anton, Andres; Bosch, Francesc; Crespo, Marta; Crespo, Marta; Esperalba, Juliana; Fernandez-Naval, Candela; Gironella, Mercedes; Hernandez, Cristina et al.
DOI: 10.1002/ajh.26951

Avapritinib versus Placebo in Indolent Systemic Mastocytosis.

PMID: 38320129
Journal:
Year: 2023
Reference: NEJM Evid. 2023 Jun;2(6):EVIDoa2200339. doi: 10.1056/EVIDoa2200339. Epub 2023 May 23.
Impact factor:
Publication type: Paper in international publication
Authors: Akin, Cem; Alvarez-Twose, Ivan; Arana Yi, Cecilia; Bandini, Perla; Barete, Stephane; Berrueco, Ruben; Bidollari, Ilda; Bonadonna, Patrizia; Borras, Nina; Bose, Prithviraj et al.
DOI: 10.1056/EVIDoa2200339

Reference values for interleukin-6 in the amniotic fluid of asymptomatic pregnant women.

PMID: 36906815
Journal: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
Year: 2023
Reference: Acta Obstet Gynecol Scand. 2023 Apr;102(4):480-485. doi: 10.1111/aogs.14524.
Impact factor:
Publication type: Paper in international publication
Authors: Arevalo, Silvia; Aviles, Maria Teresa; Carreras, Elena; Del Barco, Ester; Del Barco, Ester; Franco-Jarava, Clara; Goya, Maria; Hernandez-Gonzalez, Manuel; Maiz, Nerea; Mendoza, Manel et al.
DOI: 10.1111/aogs.14524

The Presence of ANCA in IgA Crescentic Nephropathy Does Not Lead to Worse Prognosis with Intensive Rescue Treatment.

PMID: 36498699
Journal: Journal of Clinical Medicine
Year: 2022
Reference: J Clin Med. 2022 Nov 30;11(23):7122. doi: 10.3390/jcm11237122.
Impact factor:
Publication type: Paper in international publication
Authors: Agraz, Irene; Bermejo, Sheila; Bestard, Oriol; Bolufer, Monica; Bury, Roxana; Castaneda, Zaira; Gabaldon, Alejandra; Lopez-Martinez, Marina; Ramos, Natalia; Sanz-Martinez, Maria Teresa et al.
DOI: 10.3390/jcm11237122

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

PMID: 36466883
Journal: Frontiers in Immunology
Year: 2022
Reference: Front Immunol. 2022 Nov 18;13:1014984. doi: 10.3389/fimmu.2022.1014984. eCollection 2022.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilo-Cucurull, Aina; Antolin, Maria; Batlle-Maso, Laura; Colobran, Roger; Franco-Jarava, Clara; Garcia-Prat, Marina; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Parra-Martinez, Alba; Riviere, Jacques G et al.
DOI: 10.3389/fimmu.2022.1014984

Epigenetic and transcriptomic reprogramming in monocytes of severe COVID-19 patients reflects alterations in myeloid differentiation and the influence of inflammatory cytokines.

PMID: 36443794
Journal: Genome Medicine
Year: 2022
Reference: Genome Med. 2022 Nov 29;14(1):134. doi: 10.1186/s13073-022-01137-4.
Impact factor:
Publication type: Paper in international publication
Authors: Ballestar, Esteban; Barmada, Anis; Ciudad, Laura; de la Calle-Fabregat, Carlos; Ferrer, Ricard; Ferrete-Bonastre, Anna G; Godoy-Tena, Gerard; Martinez-Gallo, Monica; Martins-Ferreira, Ricardo; Morante-Palacios, Octavio et al.
DOI: 10.1186/s13073-022-01137-4

Activation of the Monocyte/Macrophage System and Abnormal Blood Levels of Lymphocyte Subpopulations in Individuals with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis.

PMID: 36430805
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2022
Reference: Int J Mol Sci. 2022 Nov 18;23(22):14329. doi: 10.3390/ijms232214329.
Impact factor:
Publication type: Review in international publication
Authors: Arteaga-Henriquez, Gara; Gisbert, Laura; Lugo-Marin, Jorge; Martinez-Gallo, Monica; Pujol-Borrell, Ricardo; Ramos-Quiroga, Josep Antoni; Setien-Ramos, Imanol et al.
DOI: 10.3390/ijms232214329

Can we Train the Immune System of Patients With Cystic Fibrosis?

PMID: 35699016
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2021
Reference: Arch Bronconeumol. 2021 Nov;57(11):708-710. doi: 10.1016/j.arbr.2020.10.016.
Impact factor:
Publication type: Letter whit IF
Authors: Alvarez, Antoni; Assante, Giulio; Chang-Macchiu, Patricia; Clofent Alarcon, David; Martinez-Gallo, Monica; Polverino, Eva; Romero Mesones, Christian Eduardo; Traversi, Letizia; Tur-Torres, Jordi et al.
DOI: 10.1016/j.arbres.2020.10.014

Non-invasive vagus nerve stimulation for rheumatoid arthritis: a proof-of-concept study

PMID: NOPMID0094
Journal: Lancet Rheumatology
Year: 2021
Reference: Lancet Rheumatol. 2021;3(4):e262-e269. doi:10.1016/S2665-9913(20)30425-2
Impact factor:
Publication type: Paper in international publication
Authors: Alataris, Konstantinos; Baker, Matthew C ; Borrell, Helena; Charles Peterfy; Corominas, Hector; de Agustín, Juan José; Delia Reina; Franco Jarava, Clara; Genovese, Mark C ; Lopez Lasanta, Maria et al.
DOI: 10.1016/S2665-9913(20)30425-2

Cytokine Hemoadsorption as Rescue Therapy for Critically Ill Patients With SARS-CoV-2 Pneumonia With Severe Respiratory Failure and Hypercytokinemia.

PMID: 35083241
Journal: Frontiers in Medicine
Year: 2021
Reference: Front Med (Lausanne). 2022 Jan 10;8:779038. doi: 10.3389/fmed.2021.779038. eCollection 2021.
Impact factor:
Publication type: Paper in international publication
Authors: Chiscano-Camon, Luis; Ferrer, Ricard; Franco-Jarava, Clara; Hernandez-Gonzalez, Manuel; Palmada, Clara; Paola Plata-Menchaca, Erika; Perez-Carrasco, Marcos; Ruiz-Rodriguez, Juan Carlos; Ruiz-Sanmartin, Adolf et al.
DOI: 10.3389/fmed.2021.779038

Profiling of Myositis Specific Antibodies and Composite Scores as an Aid in the Differential Diagnosis of Autoimmune Myopathies.

PMID: 34943483
Journal: Diagnostics
Year: 2021
Reference: Diagnostics (Basel). 2021 Nov 30;11(12). pii: diagnostics11122246. doi: 10.3390/diagnostics11122246.
Impact factor:
Publication type: Paper in international publication
Authors: Anunciacion-Llunell, Ariadna; Bentow, Chelsea; Mahler, Michael; Malyavantham, Kishore; Sanz-Martinez, Maria Teresa; Seaman, Andrea; Selva-O'Callaghan, Albert; Vinas-Gimenez, Laura et al.
DOI: 10.3390/diagnostics11122246

Anti-TIF-1gamma Antibody Detection Using a Commercial Kit vs In-House Immunoblot: Usefulness in Clinical Practice.

PMID: 33613568
Journal: Frontiers in Immunology
Year: 2020
Reference: Front Immunol. 2021 Feb 1;11:625896. doi: 10.3389/fimmu.2020.625896. eCollection 2020.
Impact factor:
Publication type: Paper in international publication
Authors: Alserawan, Leticia; Alvarado-Cardenas, Marcelo; Baucells, Andres; Castellvi, Ivan; Corominas, Hector; Franco-Leyva, Teresa; Guillen, Andrea Garcia; Juarez, Candido; Mariscal, Anais; Martinez, Maria Angeles et al.
DOI: 10.3389/fimmu.2020.625896

Simple predictive models identify patients with COVID-19 pneumonia and poor prognosis.

PMID: 33370397
Journal: PLoS One
Year: 2020
Reference: PLoS One. 2020 Dec 28;15(12):e0244627. doi: 10.1371/journal.pone.0244627. eCollection 2020.
Impact factor:
Publication type: Paper in international publication
Authors: Anton, Andres; Camps-Relats, Laura; Gonzalez, Antonio; Gonzalez-Sans, Didac; Hernandez, Manuel; Labrador-Horrillo, Moises; Martinez-Gallo, Monica; Martinez-Valle, Fernando; Nunez-Conde, Andrea; Pujol-Borrell, Ricardo et al.
DOI: 10.1371/journal.pone.0244627

[50 years of the Neonatal Screening Program in Catalonia.]

PMID: 33323926
Journal: Revista Espanola de Salud Publica
Year: 2020
Reference: Rev Esp Salud Publica. 2020 Dec 16;94.
Impact factor:
Publication type: Paper in national publication
Authors: Argudo Ramirez, Ana; Armelles Sebastia, Merce; Arranz Amo, Jose Antonio; Artuch Iriberri, Rafael; Asensio de la Cruz, Oscar; Asso Ministral, Laia; Badenas Orquin, Celia; Beneitez Pastor, David; Blanco Alvarez, Adoracion; Cabezas Pena, Carmen et al.
DOI:

[First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]

PMID: 33323927
Journal: Revista Espanola de Salud Publica
Year: 2020
Reference: Rev Esp Salud Publica. 2020 Dec 16;94.
Impact factor:
Publication type: Paper in national publication
Authors: Argudo Ramirez, Ana; Asso Ministral, Laia; Colobran, Roger; Fernandez Bardon, Rosa Maria; Garcia Villoria, Judit; Gonzalez de Aledo Castillo, Jose Manuel; Lopez Galera, Rosa Maria; Marin Soria, Jose Luis; Martin Nalda, Andrea; Martinez Gallo, Monica et al.
DOI:

Laboratory guidelines for the diagnosis of patients with cryoglobulinaemic syndrome.

PMID: 30577994
Journal: REVISTA CLINICA ESPANOLA
Year: 2019
Reference: Rev Clin Esp. 2019 Dec;219(9):505-513. doi: 10.1016/j.rce.2018.10.006. Epub 2018 Dec 19.
Impact factor:
Publication type: Review in national publication
Authors: Hernandez Gonzalez, M; Lopez-Trascasa, M; Mariscal-Rodriguez, A; Moga Naranjo, E; Villar Guimerans, L M et al.
DOI: 10.1016/j.rce.2018.10.006

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).

PMID: 31695692
Journal: Frontiers in Immunology
Year: 2019
Reference: Front Immunol. 2019 Oct 22;10:2406. doi: 10.3389/fimmu.2019.02406. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Argudo-Ramirez, Ana; Collado, Tatiana; Colobran, Roger; Garcia-Prat, Marina; Garcia-Villoria, Judit; Gonzalez de Aledo-Castillo, Jose M; Lopez-Galera, Rosa M; Marin-Soria, Jose L; Martin-Nalda, Andrea; Martinez-Gallo, Monica et al.
DOI: 10.3389/fimmu.2019.02406

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

PMID: 31681265
Journal: Frontiers in Immunology
Year: 2019
Reference: Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilo-Cucurull, Aina; Baz-Redon, Noelia; Carreras, Carmen; Colobran, Roger; Cusco, Ivon; Fernandez-Cancio, Monica; Franco-Jarava, Clara; Garcia-Patos, Vicenc; Garcia-Prat, Marina; Irastorza, Inaki et al.
DOI: 10.3389/fimmu.2019.02325

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

PMID: 31663686
Journal: Molecular Genetics & Genomic Medicine
Year: 2019
Reference: Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30.
Impact factor:
Publication type: Paper in international publication
Authors: Argudo-Ramirez, Ana; Castells, Neus; Colobran, Roger; Cueto-Gonzalez, Anna M; Marin-Soria, Jose L; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Plaja, Albert; Riviere, Jacques; Soler-Palacin, Pere et al.
DOI: 10.1002/mgg3.1016

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

PMID: 29572183
Journal: CLINICAL IMMUNOLOGY
Year: 2018
Reference: Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20.
Impact factor:
Publication type: Paper in international publication
Authors: Aksentijevich, Ivona; Alvarez, de la Sierra Daniel; Bodet, Domingo; Colobran, Roger; Franco-Jarava, Clara; Garcia-Latorre, Laura; Garcia-Patos, Vicenc; Garcia-Prat, Marina; Martin-Nalda, Andrea; Plaja, Alberto et al.
DOI: 10.1016/j.clim.2018.03.009

Central Tolerance Mechanisms to TSHR in Graves' Disease: Contributions to Understand the Genetic Association.

PMID: 30396220
Journal: HORMONE AND METABOLIC RESEARCH
Year: 2018
Reference: Horm Metab Res. 2018 Dec;50(12):863-870. doi: 10.1055/a-0755-7927. Epub 2018 Nov 5.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez-Sierra, Daniel; Colobran, Roger; Jaraquemada, Dolores; Marin-Sanchez, Ana; Pujol-Borrell, Ricardo et al.
DOI: 10.1055/a-0755-7927

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

PMID: 30386343
Journal: Frontiers in Immunology
Year: 2018
Reference: Front Immunol. 2018 Oct 16;9:2397. doi: 10.3389/fimmu.2018.02397. eCollection 2018.
Impact factor:
Publication type: Paper in international publication
Authors: Bezdan, Daniela; Bosio, Mattia; Colobran, Roger; Franco-Jarava, Clara; Garcia-Prat, Marina; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Ossowski, Stephan; Plaja, Alberto; Riviere, Jacques G et al.
DOI: 10.3389/fimmu.2018.02397

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.

PMID: 30063981
Journal: CLINICAL IMMUNOLOGY
Year: 2018
Reference: Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Blasco, Laura; Colobran, Roger; Dieli-Crimi, Romina; Dieli-Crimi, Romina; Fernandez, Antoni Alvarez; Franco-Jarava, Clara; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Molero, Xavier et al.
DOI: 10.1016/j.clim.2018.07.015

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.

PMID: 27697500
Journal: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Year: 2017
Reference: J Allergy Clin Immunol. 2017 Apr;139(4):1282-1292. doi: 10.1016/j.jaci.2016.07.039. Epub 2016 Sep 30.
Impact factor:
Publication type: Paper in international publication
Authors: Abbott, Jordan K; Abolhassani, Hassan; Aghamohammadi, Asghar; Aquino, Victor; Bezrodnik, Liliana; Bonilla, Francisco A; Bunin, Nancy; Cabral-Marques, Otavio; Cant, Andrew; Chandra, Sharat et al.
DOI: 10.1016/j.jaci.2016.07.039

Alteration of IgG4 levels in cerebrospinal fluid in IgG4-related disease.

PMID: 29322678
Journal: International Journal of Rheumatic Diseases
Year: 2017
Reference: Int J Rheum Dis. 2017 Nov;20(11):1865-1867. doi: 10.1111/1756-185X.12739. Epub 2015 Sep 10.
Impact factor:
Publication type: Letter or abstract
Authors: Bujan-Rivas, Segundo; Fernandez-Codina, Andreu; Hernandez-Gonzalez, Manuel; Martinez-Valle, Fernando; Solans-Laque, Roser; Vilardell-Tarres, Miquel et al.
DOI: 10.1111/1756-185X.12739

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

PMID: 27658761
Journal: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Year: 2017
Reference: J Allergy Clin Immunol. 2017 Apr;139(4):1302-1310.e4. doi: 10.1016/j.jaci.2016.07.040. Epub 2016 Sep 19.
Impact factor:
Publication type: Paper in international publication
Authors: Aiuti, Alessandro; Al-Herz, Waleed; Albert, Michael H; Allende, Luis M; Avcin, Tadej; Cancrini, Caterina; Cant, Andrew; Di Cesare, Silvia; Doerken, Sam; Ehl, Stephan et al.
DOI: 10.1016/j.jaci.2016.07.040

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

PMID: 28942469
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2017
Reference: J Clin Immunol. 2017 Nov;37(8):781-789. doi: 10.1007/s10875-017-0447-x. Epub 2017 Sep 23.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez de la Campa, Elena; Colobran, Roger; de la Cruz, Xavier; Franco-Jarava, Clara; Garcia-Prat, Marina; Hernandez-Gonzalez, Manuel; Martin-Nalda, Andrea; Mas-Bosch, Virginia; Morandeira-Rego, Francisco; Solanich, Xavier et al.
DOI: 10.1007/s10875-017-0447-x

[Is familial screening useful in selective immunoglobulin A deficiency?]

PMID: 26033741
Journal: ANALES DE PEDIATRIA
Year: 2016
Reference: An Pediatr (Barc). 2016 Feb;84(2):70-8. doi: 10.1016/j.anpedi.2015.04.017. Epub 2015 May 30.
Impact factor:
Publication type: Paper in international publication
Authors: Caracseghi, F; Cobos-Carrascosa, E; Figueras-Nadal, C; Hernandez, M; Martin-Nalda, A; Soler-Palacin, P et al.
DOI: 10.1016/j.anpedi.2015.04.017

Chronic Recurrent Multifocal Osteomyelitis and Thalidomide in Chronic Granulomatous Disease.

PMID: 27436506
Journal: PEDIATRICS
Year: 2016
Reference: Pediatrics. 2016 Aug;138(2). pii: e20154017. doi: 10.1542/peds.2015-4017. Epub 2016 Jul 19.
Impact factor:
Publication type: Paper in international publication
Authors: Barber, Ignasi; Fernandez-Polo, Aurora; Fontecha, Cesar Galo; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Roca, Isabel; Soler-Palacin, Pere et al.
DOI: 10.1542/peds.2015-4017

Statin-associated autoimmune myopathy: A distinct new IFL pattern can increase the rate of HMGCR antibody detection by clinical laboratories.

PMID: 27640317
Journal: AUTOIMMUNITY REVIEWS
Year: 2016
Reference: Autoimmun Rev. 2016 Dec;15(12):1161-1166. doi: 10.1016/j.autrev.2016.09.005. Epub 2016 Sep 15.
Impact factor:
Publication type: Paper in international publication
Authors: Acebes, E Martinez; Alvarado-Cardenas, M; Balada, E; Casademont, J; Gonzalez-Mera, L; Grau-Junyent, J M; Juarez, C; Labrador-Horrillo, M; Marin, A; Martinez, L et al.
DOI: 10.1016/j.autrev.2016.09.005

AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.

PMID: 27266815
Journal: HUMAN IMMUNOLOGY
Year: 2016
Reference: Hum Immunol. 2016 Aug;77(8):643-651. doi: 10.1016/j.humimm.2016.06.002. Epub 2016 Jun 4.
Impact factor:
Publication type: Paper in international publication
Authors: Colobran, Roger; Gimenez-Barcons, Mireia; Porta-Pardo, Eduard; Pujol-Borrell, Ricardo; Sanchez, Ana Marin et al.
DOI: 10.1016/j.humimm.2016.06.002

Statins and myositis: the role of anti-HMGCR antibodies.

PMID: 26492593
Journal: EXPERT REV CLIN IMMU
Year: 2015
Reference: Expert Rev Clin Immunol. 2015;11(12):1277-9. doi: 10.1586/1744666X.2015.1102632. Epub 2015 Oct 22.
Impact factor:
Publication type: Editorail in international publication
Authors: Alvarado-Cardenas, Marcelo; Marin, Ana; Pinal-Fernandez, Iago; Selva-O'Callaghan, Albert et al.
DOI: 10.1586/1744666X.2015.1102632

Type 1 Diabetes Prevention in NOD Mice by Targeting DPPIV/CD26 Is Associated with Changes in CD8(+)T Effector Memory Subset.

PMID: 26555789
Journal: PLOS ONE
Year: 2015
Reference: PLoS One. 2015 Nov 10;10(11):e0142186. doi: 10.1371/journal.pone.0142186. eCollection 2015.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso, Nuria; Carrascal, Jorge; Colobran, Roger; Fernandez, Marco Antonio; Julian, Maria Teresa; Minarro, Antoni; Puig-Domingo, Manel; Pujol-Autonell, Irma; Rodriguez-Fernandez, Silvia; Ruiz de Villa, Maria Carmen et al.
DOI: 10.1371/journal.pone.0142186

Evaluation of Cytokine Profile and HLA Association in Benznidazole Related Cutaneous Reactions in Patients With Chagas Disease.

PMID: 26265500
Journal: CLIN INFECT DIS
Year: 2015
Reference: Clin Infect Dis. 2015 Dec 1;61(11):1688-94. doi: 10.1093/cid/civ690. Epub 2015 Aug 11.
Impact factor:
Publication type: Paper in international publication
Authors: Aparicio, Gloria; Artaza, M Angeles; Ferrer, Berta; Garcia-Prat, Marina; Martinez-Gallo, Monica; Molina, Israel; Sala-Cunill, Anna; Salvador, Fernando; Sanchez-Montalva, Adrian; Sao Aviles, Augusto et al.
DOI: 10.1093/cid/civ690

Genetics of Graves' Disease: Special Focus on the Role of TSHR Gene.

PMID: 26361261
Journal: HORM METAB RES
Year: 2015
Reference: Horm Metab Res. 2015 Sep;47(10):753-66. doi: 10.1055/s-0035-1559646. Epub 2015 Sep 11.
Impact factor:
Publication type: Paper in international publication
Authors: Colobran, R; Gimenez-Barcons, M; Marin-Sanchez, A; Pujol-Borrell, R et al.
DOI: 10.1055/s-0035-1559646

A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema.

PMID: 24760113
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2014
Reference: J Clin Immunol. 2014 Jul;34(5):521-3. doi: 10.1007/s10875-014-0042-3. Epub 2014 Apr 24.
Impact factor:
Publication type: Paper in international publication
Authors: Colobran, Roger; Guilarte, Mar; Hernandez-Gonzalez, Manuel; Pujol-Borrell, Ricardo et al.
DOI: 10.1007/s10875-014-0042-3

Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.

PMID: 25217160
Journal: JOURNAL OF IMMUNOLOGY
Year: 2014
Reference: J Immunol. 2014 Oct 15;193(8):3872-9. doi: 10.4049/jimmunol.1400223. Epub 2014 Sep 12.
Impact factor:
Publication type: Paper in international publication
Authors: Armengol, Maria del Pilar; Casteras, Anna; Colobran, Roger; Correa, Paula A; Gimenez-Barcons, Mireia; Marin, Ana; Porta, Eduard; Pujol-Borrell, Ricardo et al.
DOI: 10.4049/jimmunol.1400223

Gene expression signature of tolerance and lymphocyte subsets in stable renal transplants: results of a cross-sectional study.

PMID: 24810779
Journal: TRANSPLANT IMMUNOLOGY
Year: 2014
Reference: Transpl Immunol. 2014 Jun;31(1):11-6. doi: 10.1016/j.trim.2014.04.008. Epub 2014 May 5.
Impact factor:
Publication type: Paper in international publication
Authors: Benlloch, Susana; Cantarell, Carme; Jimeno, Jose; Martinez-Gallo, Monica; Moreso, Francesc; Perello, Manel; Pujol-Borrell, Ricardo; Seron, Daniel; Torres, Irina B et al.
DOI: 10.1016/j.trim.2014.04.008

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

PMID: 24412907
Journal: CLINICAL IMMUNOLOGY
Year: 2014
Reference: Clin Immunol. 2014 Feb;150(2):143-8. doi: 10.1016/j.clim.2013.11.013. Epub 2013 Dec 4.
Impact factor:
Publication type: Paper in international publication
Authors: Colobran, Roger; de la Cruz, Xavier; Guilarte, Mar; Hernandez-Gonzalez, Manuel; Lois, Sergio; Pujol-Borrell, Ricardo et al.
DOI: 10.1016/j.clim.2013.11.013

Composition of the HLA-DR-associated human thymus peptidome.

PMID: 23719902
Journal: EUROPEAN JOURNAL OF IMMUNOLOGY
Year: 2013
Reference: Eur J Immunol. 2013 Sep;43(9):2273-82. doi: 10.1002/eji.201243280. Epub 2013 Jul 12.
Impact factor:
Publication type: Paper in international publication
Authors: Abian, Joaquin; Alvarez, Inaki; Canals, Francesc; Carrascal, Montserrat; Ciudad, M Teresa; Collado, Javier A; Espinosa, Gabriel; Jaraquemada, Dolores; Pujol-Borrell, Ricardo et al.
DOI: 10.1002/eji.201243280

Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.

PMID: 24118886
Journal: GENES BRAIN AND BEHAVIOR
Year: 2013
Reference: Genes Brain Behav. 2013 Nov;12(8):812-20. doi: 10.1111/gbb.12089. Epub 2013 Oct 25.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Blanco-Grau, Albert; Bonaventura-Ibars, Inmaculada; Coll-Canti, Jaume; Garcia-Arumi, Elena; Martinez, Ramiro; Martinez-Gallo, Monica; Melia, Maria Jesus; Pinos, Tomas et al.
DOI: 10.1111/gbb.12089

Peptides presented by HLA class I molecules in the human thymus.

PMID: 24029068
Journal: Journal of Proteomics
Year: 2013
Reference: J Proteomics. 2013 Dec 6;94:23-36. doi: 10.1016/j.jprot.2013.08.023. Epub 2013 Sep 9.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Inaki; Canals, Francesc; Carrascal, Montserrat; Collado, Javier A; Espinosa, Gabriel; Jaraquemada, Dolores; Kuse, Nozomi; Mestre-Ferrer, Anna; Pujol-Borrell, Ricardo; Scholz, Erika et al.
DOI: 10.1016/j.jprot.2013.08.023

IL-12Rbeta1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database.

PMID: 23864330
Journal: HUMAN MUTATION
Year: 2013
Reference: Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8.
Impact factor:
Publication type: Paper in international publication
Authors: Arostegui, Juan I; Blancas-Galicia, Lizbeth; Boisson-Dupuis, Stephanie; Broides, Arnon; Bustamante, Jacinta; Cagdas, Deniz; Casanova, Jean-Laurent; de Paus, Roelof A; Espinosa-Rosales, Francisco J; Garty, Ben Zion et al.
DOI: 10.1002/humu.22380

Subjectivity and flow cytometric variability.

PMID: 22531327
Journal: NATURE REVIEWS IMMUNOLOGY
Year: 2012
Reference: Nat Rev Immunol. 2012 Apr 25;12(5):396; author reply 396. doi: 10.1038/nri3158-c1.
Impact factor:
Publication type: Letter whit IF
Authors: Caragol, Isabel; Pachon, Gisela; Petriz, Jordi et al.
DOI: 10.1038/nri3158-c1

Diagnosis of autosomal-dominant hyperimmunoglobulin E syndrome.

PMID: 22533245
Journal: JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY
Year: 2012
Reference: J Investig Allergol Clin Immunol. 2012;22(2):149-52.
Impact factor:
Publication type: Editorail in international publication
Authors: Detkova, D; Espanol, T; Garces, P; Garcia-Martin, F et al.
DOI:

Overexpression of Metallothionein I/II: A New Feature of Thyroid Follicular Cells in Graves' Disease.

PMID: 22090273
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2012
Reference: J Clin Endocrinol Metab. 2012 Feb;97(2):446-54. Epub 2011 Nov 16.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; et al.
DOI: 10.1210/jc.2011-1429

Toll-like receptor 4-, 7-, and 8-activated myeloid cells from patients with X-linked agammaglobulinemia produce enhanced inflammatory cytokines.

PMID: 22088613
Journal: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Year: 2012
Reference: J Allergy Clin Immunol. 2012 Jan;129(1):184-190.e4. Epub 2011 Nov 16.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; et al.
DOI: 10.1016/j.jaci.2011.10.009

[Spectrum of primary immunodeficiencies in a tertiary hospital over a period of 10 years].

PMID: 21168377
Journal: ANALES DE PEDIATRIA
Year: 2011
Reference: An Pediatr (Barc). 2011 Feb;74(2):74-83. Epub 2010 Dec 17.
Impact factor:
Publication type: Paper in national publication
Authors: Caragol Urgelles, I; Diaz de Heredia Rubio, C; Espanol Boren, T; Figueras Nadal, C; Martin-Nalda, A; Soler-Palacin, P et al.
DOI: 10.1016/j.anpedi.2010.09.019

Regenerating gene Ialpha is a biomarker for diagnosis and monitoring of celiac disease: a preliminary study.

PMID: 21867979
Journal: Translational Research
Year: 2011
Reference: Transl Res. 2011 Sep;158(3):140-5. Epub 2011 May 30.
Impact factor:
Publication type: Paper in international publication
Authors: Cabre, Eduard; Lucas-Martin, Anna; Martinez-Caceres, Eva; Montraveta, Montserrat; Planas, Raquel; Pujol-Autonell, Irma; Pujol-Borrell, Ricardo; Ruiz, Estibaliz; Vives-Pi, Marta et al.
DOI: 10.1016/j.trsl.2011.04.004

Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance.

PMID: 21642385
Journal: HUMAN MOLECULAR GENETICS
Year: 2011
Reference: Hum Mol Genet. 2011 Sep 1;20(17):3415-23. Epub 2011 Jun 3.
Impact factor:
Publication type: Paper in international publication
Authors: Armengol, Maria Del Pilar; Colobran, Roger; Faner, Rosa; Gartner, Martina; Juan, Manel; Kyewski, Bruno; Lucas, Anna; Pujol-Borrell, Ricardo; Ruiz, Marta; Tykocinski, Lars-Oliver et al.
DOI: 10.1093/hmg/ddr247

Analysis of the cumulative changes in Graves' disease thyroid glands points to IFN signature, plasmacytoid DCs and alternatively activated macrophages as chronicity determining factors.

PMID: 21354768
Journal: JOURNAL OF AUTOIMMUNITY
Year: 2011
Reference: J Autoimmun. 2011 May;36(3-4):189-200. Epub 2011 Feb 26.
Impact factor:
Publication type: Paper in international publication
Authors: Armengol Barnils, Maria Del Pilar; Borras Serres, Francesc-E; Colobran Oriol, Roger; Lucas-Martin, Anna; Martinez Caceres, Eva Maria; Pujol-Borrell, Ricardo; Ruiz-Riol, Marta; Sanchez Pla, Alex et al.
DOI: 10.1016/j.jaut.2011.01.002

Global gene expression changes in type 1 diabetes: insights into autoimmune response in the target organ and in the periphery.

PMID: 20708640
Journal: IMMUNOLOGY LETTERS
Year: 2010
Reference: Immunol Lett. 2010 Oct 30;133(2):55-61. Epub 2010 Aug 11.
Impact factor:
Publication type: Paper in international publication
Authors: Planas, Raquel; Pujol-Borrell, Ricardo; Vives-Pi, Marta et al.
DOI: 10.1016/j.imlet.2010.08.001

Gene expression profiles for the human pancreas and purified islets in type 1 diabetes: new findings at clinical onset and in long-standing diabetes.

PMID: 19912253
Journal: CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Year: 2010
Reference: Clin Exp Immunol. 2010 Jan;159(1):23-44. Epub 2009 Nov 11.
Impact factor:
Publication type: Paper in international publication
Authors: Carrillo, J; de Villa, M C Ruiz; James, R F L; Nunez, F; Planas, R; Pujol-Borrell, R; Sanchez, A; Verdaguer, J; Vives-Pi, M et al.
DOI: 10.1111/j.1365-2249.2009.04053.x

Dendritic cells pulsed with antigen-specific apoptotic bodies prevent experimental type 1 diabetes.

PMID: 20030670
Journal: CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Year: 2010
Reference: Clin Exp Immunol. 2010 May;160(2):207-14. Epub 2009 Dec 17.
Impact factor:
Publication type: Paper in international publication
Authors: Ampudia, R; Borras, F E; Carrascal, J; Carrillo, J; Clemente-Casares, X; Marin-Gallen, S; Planas, R; Pujol-Autonell, I; Pujol-Borrell, R; Verdaguer, J et al.
DOI: 10.1111/j.1365-2249.2009.04082.x

Revisiting Human IL-12Rbeta1 Deficiency: A Survey of 141 Patients From 30 Countries.

PMID: 21057261
Journal: MEDICINE
Year: 2010
Reference: Medicine (Baltimore). 2010 Nov;89(6):381-402.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1097/MD.0b013e3181fdd832

Regulatory T cells in diabetes and gastritis.

PMID: 19393198
Journal: AUTOIMMUNITY REVIEWS
Year: 2009
Reference: Autoimmun Rev. 2009 Jul;8(8):659-62. Epub 2009 Feb 12.
Impact factor:
Publication type: Review in international publication
Authors: Alonso, Nuria; Martinez-Caceres, Eva; Pujol-Borrell, Ricardo; Sanmarti, Anna; Soldevila, Berta et al.
DOI: 10.1016/j.autrev.2009.02.014

Myelin peptides in multiple sclerosis.

PMID: 19393199
Journal: AUTOIMMUNITY REVIEWS
Year: 2009
Reference: Autoimmun Rev. 2009 Jul;8(8):650-3. Epub 2009 Feb 12.
Impact factor:
Publication type: Review in international publication
Authors: Borras, F E; Davalos, A; Grau-Lopez, L; Martinez-Caceres, E; Naranjo-Gomez, M; Pujol-Borrell, R; Raich, D; Ramo-Tello, C et al.
DOI: 10.1016/j.autrev.2009.02.013

An update on treatment strategies for common variable immunodeficiency.

PMID: 20477035
Journal: Expert Rev Clin Immunol
Year: 2009
Reference: Expert Rev Clin Immunol. 2009 Jul;5(4):381-90.
Impact factor:
Publication type: Letter or abstract
Authors: Detkova, Drahomira; Espanol, Teresa et al.
DOI: 10.1586/eci.09.22

The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008.

PMID: 19630863
Journal: CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Year: 2009
Reference: Clin Exp Immunol. 2009 Sep;157 Suppl 1:3-11.
Impact factor:
Publication type: Paper in international publication
Authors: Abuzakouk, M; Bangs, C; Baumann, U; Beaute, J; Beaute, J; Benslama, L; Brodszki, N; Caragol, I; Ciznar, P; Core, C et al.
DOI: 10.1111/j.1365-2249.2009.03954.x

Thesis

Mecanismos de tolerancia al receptor de la tirotropina (TSHR): Análisis de su contribución a la respuesta autoinmune en la enfermedad de Graves

PhD student: Ana María Marín Sánchez, Ana María Marín Sánchez
Director/s: Ricardo Pujol Borrell, Roger Colobran Oriol
University: Universidad Autònoma de Barcelona
Year: 2020

Cell base assays to investigate the functional relevance of HLH genetic variants

PhD student: Laura Viñas Gimenez, Laura Viñas Gimenez
Director/s: Mónica Martínez Gallo, Juan Sayos Ortega
University: Universidad Autònoma de Barcelona
Year: 2019

Clinical and molecular characterization of factor I and C5 complemet deficiencies: from diagnosis to population studies

PhD student: Clara Franco Jarava
Director/s: Roger Colobran Oriol, Manuel Hernández González
University: Universidad Autònoma de Barcelona
Year: 2017

Estudio de la reconstitución de poblaciones de linfocitos T mediante marcadores epigenéticos

PhD student: Paula Andrea Correa Vanegas
Director/s: Ricardo Pujol Borrell, Roger Colobran Oriol
University: Universidad Autònoma de Barcelona
Year: 2013

Blog

News

The new technology allows more sensitive detection of scleroderma patients' autoantibodies, which are related to the severity and progression of the disease.

A study from the Vall d’Hebron Campus demonstrates that the Ex Vivo C5b-9 deposition test is useful for monitoring the activity of the complement system (CS) in patients with aHUS or transplant-associated TMA.

The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.