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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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Ricardo Pujol Borrell

Ricardo Pujol Borrell

Main researcher
Translational Immunology
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Clara Franco Jarava

Clara Franco Jarava

Main 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
Read more
Ricardo Pujol Borrell

Ricardo Pujol Borrell

Main researcher
Translational Immunology
Read more
Clara Franco Jarava

Clara Franco Jarava

Main researcher
Translational Immunology
Read more

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: Ricardo Pujol Borrell, 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: Ricardo Pujol Borrell, 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

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, Alba Parra Martínez, 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, Mercedes López González, 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

Estudio de expresión de antígenos en tejido tumoral de pacientes con Esclerosis Sistémica.

IP: Alfredo Guillen Del Castillo
Collaborators: Carmen Pilar Simeón i Aznar, Vicenç Fonollosa Pla, Maria Roca Herrera, Janire Perurena Prieto, Irene Sansano Valero
Funding agency: Instituto de Salud Carlos III
Funding: 75020
Reference: PI22/01804
Duration: 01/01/2023 - 31/12/2025

Publications

Clinical and functional spectrum of RAC2-related immunodeficiency.

PMID: 38194689
Journal: BLOOD
Year: 2024
Reference: Blood. 2024 Jan 9:blood.2023022098. doi: 10.1182/blood.2023022098.
Impact factor:
Publication type: Paper in international publication
Authors: Abbott, Jordan; Abers, Michael S; Abolhassani, Hassan; Barlogis, Vincent; Barmettler, Sara; Campbell, Nicholas; Chapdelaine, Hugo; Church, Joseph A; Cros, Guilhem; Deordieva, Ekaterina et al.
DOI: 10.1182/blood.2023022098

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

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

PMID: 37020259
Journal: Genome Medicine
Year: 2023
Reference: Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8.
Impact factor:
Publication type: Paper in international publication
Authors: Abad, Jorge; Abad, Sebastien; Abassi, Radhiya; Abdelhadi, Nour Mekki; Abdellaoui, Abdelrafie; Abdelmalek, Abdelkrim; Abdoul, Hendy; Abel, Laurent; Abel, Laurent; Abel, Laurent et al.
DOI: 10.1186/s13073-023-01173-8

Invasive bacterial infection in children with fever and petechial rash in the emergency department: a national prospective observational study.

PMID: 37019466
Journal: ARCHIVES OF DISEASE IN CHILDHOOD
Year: 2023
Reference: Arch Dis Child. 2023 Jun;108(6):445-450. doi: 10.1136/archdischild-2022-325281. Epub 2023 Apr 4.
Impact factor:
Publication type: Paper in international publication
Authors: Cabrerizo, Maria; Castano, Anton; Castellarnau, Ester; de la Torre, Maria Jose; Del Rio, Patricia; Fernandez, Jose Luis; Garrido, Estibaliz; Gil, Elena; Hernandez, Maria; Martinez, Javier et al.
DOI: 10.1136/archdischild-2022-325281

Anti-U11/U12 Antibodies as a Rare but Important Biomarker in Patients with Systemic Sclerosis: A Narrative Review.

PMID: 37046475
Journal: Diagnostics
Year: 2023
Reference: Diagnostics (Basel). 2023 Mar 27;13(7):1257. doi: 10.3390/diagnostics13071257.
Impact factor:
Publication type: Review in international publication
Authors: Bentow, Chelsea; Beretta, Lorenzo; Callejas-Moraga, Eduardo; Fonollosa-Pla, Vicent; Fritzler, Marvin J; Guillen-Del-Castillo, Alfredo; Mahler, Michael; Marin, Ana; Palterer, Boaz; Perurena-Prieto, Janire et al.
DOI: 10.3390/diagnostics13071257

Commercialized kits to assess T-cell responses against SARS-CoV-2 S peptides. A pilot study in health care workers.

PMID: 35999826
Journal: Medicina clinica (English ed.)
Year: 2022
Reference: Med Clin (Engl Ed). 2022 Aug 12;159(3):116-123. doi: 10.1016/j.medcle.2021.09.028. Epub 2022 Aug 19.
Impact factor:
Publication type: Paper in international publication
Authors: Anton, Andres; Arrese-Munoz, Iria; Cardona, Victoria; Esperalba, Juliana; Fernandez-Naval, Candela; Hernandez-Gonzalez, Manuel; Labrador-Horrillo, Moises; Martinez-Gallo, Monica; Pujol-Borrell, Ricardo; Pumarola, Tomas et al.
DOI: 10.1016/j.medcle.2021.09.028

Humoral and Cellular Responses to SARS-CoV-2 in Convalescent COVID-19 Patients With Multiple Sclerosis.

PMID: 35105687
Journal: Neurology-Neuroimmunology & Neuroinflammation
Year: 2022
Reference: Neurol Neuroimmunol Neuroinflamm. 2022 Feb 1;9(2). pii: 9/2/e1143. doi: 10.1212/NXI.0000000000001143. Print 2022 Mar.
Impact factor: 8.485
Publication type: Paper in international publication
Authors: Arrambide, Georgina; Zabalza, Ana; Nos, Carlos; Sastre-Garriga, Jaume; Tintore, Mar; Montalban, Xavier; Comabella, Manuel; Espejo, Carmen; Castillo, Joaquin; Otero-Romero, Susana et al.
DOI: 10.1212/NXI.0000000000001143

Whole-genome sequencing reveals host factors underlying critical COVID-19.

PMID: 35255492
Journal: NATURE
Year: 2022
Reference: Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7.
Impact factor: 49.962
Publication type: Paper in international publication
Authors: Tsinaslanidis, George; Birkinshaw, Isobel; Carter, Joseph; Howard, Kate; Ingham, Joanne; Joy, Rosie; Pearson, Harriet; Roche, Samantha; Scott, Zoe; Bancroft, Hollie et al.
DOI: 10.1038/s41586-022-04576-6

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.

PMID: 35770252
Journal: EClinicalMedicine
Year: 2022
Reference: EClinicalMedicine. 2022 Jun 25;50:101515. doi: 10.1016/j.eclinm.2022.101515. eCollection 2022 Aug.
Impact factor: 0
Publication type: Paper in international publication
Authors: Davalos, Veronica; Garcia-Prieto, Carlos A; Alegria, Iosune; Aguilera-Albesa, Sergio; Valencia-Ramos, Juan; Rodriguez-Palmero, Agusti; Ruiz, Montserrat; Planas-Serra, Laura; Jordan, Iolanda; Ferrer, Gerardo et al.
DOI: 10.1016/j.eclinm.2022.101515

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: 5.093
Publication type: Paper in international publication
Authors: Palmada, Clara, Paola Plata-Menchaca, Erika, Franco-Jarava, Clara, Perez-Carrasco, Marcos, Hernandez-Gonzalez, Manuel, Ferrer, Ricard, Ruiz-Sanmartin, Adolf, Chiscano-Camon, Luis, Ruiz-Rodriguez, Juan Carlos 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: 3.706
Publication type: Paper in international publication
Authors: Mahler, Michael, Malyavantham, Kishore, Seaman, Andrea, Bentow, Chelsea, Anunciacion-Llunell, Ariadna, Sanz-Martinez, Maria Teresa, Vinas-Gimenez, Laura, Selva-O'Callaghan, Albert et al.
DOI: 10.3390/diagnostics11122246

Serum CXCL13, BAFF, IL-21 and IL-22 levels are related to disease activity and lymphocyte profile in primary Sjogren's syndrome.

PMID: 34919042
Journal: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
Year: 2021
Reference: Clin Exp Rheumatol. 2021 Nov-Dec;39 Suppl 133(6):131-139. Epub 2021 Dec 15.
Impact factor: 4.473
Publication type: Paper in international publication
Authors: Loureiro-Amigo, Jose, Franco-Jarava, Clara, Perurena-Prieto, Janire, Palacio, Carlos, Martinez-Valle, Fernando, Solans-Laque, Roser et al.
DOI:

Hemadsorption as a Treatment Option for Multisystem Inflammatory Syndrome in Children Associated With COVID-19. A Case Report.

PMID: 34140949
Journal: Frontiers in Immunology
Year: 2021
Reference: Front Immunol. 2021 Jun 1;12:665824. doi: 10.3389/fimmu.2021.665824. eCollection 2021.
Impact factor: 7.561
Publication type: Letter or abstract
Authors: Ruiz-Rodriguez, Juan Carlos, Chiscano-Camon, Luis, Palmada, Clara, Ruiz-Sanmartin, Adolf, Garcia-de-Acilu, Marina, Plata-Menchaca, Erika, Perurena-Prieto, Janire, Hernandez-Gonzalez, Manuel, Perez-Carrasco, Marcos, Soler-Palacin, Pere et al.
DOI: 10.3389/fimmu.2021.665824

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

PMID: 33328136
Journal:
Year: 2020
Reference: Arch Bronconeumol (Engl Ed). 2020 Nov 9:S0300-2896(20)30397-5. doi: 10.1016/j.arbres.2020.10.014.
Impact factor:
Publication type: Other (letters to the editor, abstracts, corrigendum, etc.)
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

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: 5.085
Publication type: Paper in international publication
Authors: Mariscal, Anais, Milan, Milena, Baucells, Andres, Martinez, Maria Angeles, Guillen, Andrea Garcia, Trallero-Araguas, Ernesto, Alvarado-Cardenas, Marcelo, Martinez-Martinez, Laura, Alserawan, Leticia, Franco-Leyva, Teresa et al.
DOI: 10.3389/fimmu.2020.625896

Headache: A striking prodromal and persistent symptom, predictive of COVID-19 clinical evolution.

PMID: 33146036
Journal: CEPHALALGIA
Year: 2020
Reference: Cephalalgia. 2020 Nov;40(13):1410-1421. doi: 10.1177/0333102420965157.
Impact factor: 4.868
Publication type: Paper in international publication
Authors: Caronna, Edoardo, Ballve, Alejandro, Llaurado, Arnau, Gallardo, Victor Jose, Maria Ariton, Diana, Lallana, Sofia, Maza, Samuel Lopez, Gadea, Marta Olive, Quibus, Laura, Restrepo, Juan Luis et al.
DOI: 10.1177/0333102420965157

COVID-19: age, Interleukin-6, C-reactive protein, and lymphocytes as key clues from a multicentre retrospective study.

PMID: 32802142
Journal: Immunity & Ageing
Year: 2020
Reference: Immun Ageing. 2020 Aug 14;17:22. doi: 10.1186/s12979-020-00194-w. eCollection 2020.
Impact factor: 2.804
Publication type: Paper in international publication
Authors: Boix, Francisco, Martinez-Caceres, Eva, Hernandez, Manuel, Perurena-Prieto, Janire, Gil, Juana, Cantenys, Sergi, Gonzalez-Martinez, Gema, Martinez-Saavedra, Maria T, Rojo, Ricardo, Marco, Francisco M et al.
DOI: 10.1186/s12979-020-00194-w

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: 1.043
Publication type: Review in national publication
Authors: Moga Naranjo, E, Hernandez Gonzalez, M, Lopez-Trascasa, M, Villar Guimerans, L M, Mariscal-Rodriguez, A et al.
DOI: 10.1016/j.rce.2018.10.006

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: 4.716
Publication type: Paper in international publication
Authors: Rudilla, Francesc, Franco-Jarava, Clara, Martinez-Gallo, Monica, Garcia-Prat, Marina, Martin-Nalda, Andrea, Riviere, Jacques, Aguilo-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier et al.
DOI: 10.3389/fimmu.2019.02325

Regulation of TSHR Expression in the Thyroid and Thymus May Contribute to TSHR Tolerance Failure in Graves' Disease Patients via Two Distinct Mechanisms.

PMID: 31379878
Journal: Frontiers in Immunology
Year: 2019
Reference: Front Immunol. 2019 Jul 18;10:1695. doi: 10.3389/fimmu.2019.01695. eCollection 2019.
Impact factor: 4.716
Publication type: Paper in international publication
Authors: Marin-Sanchez, Ana, Alvarez-Sierra, Daniel, Gonzalez, Oscar, Lucas-Martin, Ana, Selles-Sanchez, Alicia, Rudilla, Francesc, Enrich, Emma, Colobran, Roger, Pujol-Borrell, Ricardo et al.
DOI: 10.3389/fimmu.2019.01695

Analysis of the PD-1/PD-L1 axis in human autoimmune thyroid disease: Insights into pathogenesis and clues to immunotherapy associated thyroid autoimmunity.

PMID: 31182340
Journal: JOURNAL OF AUTOIMMUNITY
Year: 2019
Reference: J Autoimmun. 2019 Sep;103:102285. doi: 10.1016/j.jaut.2019.05.013. Epub 2019 Jun 8.
Impact factor: 7.543
Publication type: Paper in international publication
Authors: Alvarez-Sierra, Daniel, Marin-Sanchez, Ana, Ruiz-Blazquez, Paloma, de Jesus Gil, Carmen, Gonzalez, Oscar, Casteras, Anna, Costa, Roser Ferrer, Nuciforo, Paolo, Colobran, Roger, Pujol-Borrell, Ricardo et al.
DOI: 10.1016/j.jaut.2019.05.013

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: 3.557
Publication type: Paper in international publication
Authors: Soler-Palacin, Pere, Colobran, Roger, Aksentijevich, Ivona, Garcia-Latorre, Laura, Franco-Jarava, Clara, Wang, Hongying, Martin-Nalda, Andrea, Alvarez, de la Sierra Daniel, Garcia-Prat, Marina, Bodet, Domingo et al.
DOI: 10.1016/j.clim.2018.03.009

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: 5.511
Publication type: Paper in international publication
Authors: Soler-Palacin, Pere, Garcia-Prat, Marina, Martin-Nalda, Andrea, Franco-Jarava, Clara, Riviere, Jacques G, Plaja, Alberto, Bezdan, Daniela, Bosio, Mattia, Martinez-Gallo, Monica, Ossowski, Stephan et al.
DOI: 10.3389/fimmu.2018.02397

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: 2.56
Publication type: Paper in international publication
Authors: Pujol-Borrell, Ricardo, Alvarez-Sierra, Daniel, Jaraquemada, Dolores, Marin-Sanchez, Ana, Colobran, Roger et al.
DOI: 10.1055/a-0755-7927

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: 3.557
Publication type: Paper in international publication
Authors: Dieli-Crimi, Romina, Martinez-Gallo, Monica, Franco-Jarava, Clara, Antolin, Maria, Blasco, Laura, Paramonov, Ida, Semidey, Maria E, Fernandez, Antoni Alvarez, Velasquez, Julio, Martin-Nalda, Andrea 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: 13.081
Publication type: Paper in international publication
Authors: Shcherbina, Anna, Torgerson, Troy R, Cabral-Marques, Otavio, Slatter, Mary, Aghamohammadi, Asghar, Chandra, Sharat, Murguia-Favela, Luis, Bonilla, Francisco A, Kanariou, Maria, Damrongwatanasuk, Rongras 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: 2.624
Publication type: Letter or abstract
Authors: Hernandez-Gonzalez, Manuel, Solans-Laque, Roser, Bujan-Rivas, Segundo, Vilardell-Tarres, Miquel, Martinez-Valle, Fernando, Fernandez-Codina, Andreu et al.
DOI: 10.1111/1756-185X.12739

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: 3.253
Publication type: Paper in international publication
Authors: Franco-Jarava, Clara, Alvarez de la Campa, Elena, Solanich, Xavier, Morandeira-Rego, Francisco, Mas-Bosch, Virginia, Garcia-Prat, Marina, de la Cruz, Xavier, Martin-Nalda, Andrea, Soler-Palacin, Pere, Hernandez-Gonzalez, Manuel et al.
DOI: 10.1007/s10875-017-0447-x

Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, Sub-Saharan Africa: Implications for the susceptibility to meningococcal disease.

PMID: 28369827
Journal: CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Year: 2017
Reference: Clin Exp Immunol. 2017 Aug;189(2):226-231. doi: 10.1111/cei.12967. Epub 2017 Apr 20.
Impact factor: 3.41
Publication type: Paper in international publication
Authors: Franco-Jarava, Clara, Comas, David, Orren, Ann, Hernandez-Gonzalez, Manuel, Colobran, Roger et al.
DOI: 10.1111/cei.12967

[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: 0.833
Publication type: Paper in international publication
Authors: Figueras-Nadal, C, Caracseghi, F, Soler-Palacin, P, Cobos-Carrascosa, E, Martin-Nalda, A, Hernandez, M et al.
DOI: 10.1016/j.anpedi.2015.04.017

Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a factor I deficiency due to a novel homozygous mutation.

PMID: 27091480
Journal: IMMUNOLOGY LETTERS
Year: 2016
Reference: Immunol Lett. 2016 Jun;174:19-22. doi: 10.1016/j.imlet.2016.04.011. Epub 2016 Apr 14.
Impact factor: 2.483
Publication type: Paper in international publication
Authors: Franco-Jarava, Clara, Colobran, Roger, Mestre-Torres, Jaume, Vargas, Victor, Pujol-Borrell, Ricardo, Hernandez-Gonzalez, Manuel et al.
DOI: 10.1016/j.imlet.2016.04.011

Novel Mutations Causing C5 Deficiency in Three North-African Families.

PMID: 27026170
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2016
Reference: J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30.
Impact factor: 3.094
Publication type: Paper in international publication
Authors: Colobran, Roger, Franco-Jarava, Clara, Martin-Nalda, Andrea, Baena, Neus, Gabau, Elisabeth, Padilla, Natalia, de la Cruz, Xavier, Pujol-Borrell, Ricardo, Comas, David, Soler-Palacin, Pere et al.
DOI: 10.1007/s10875-016-0275-4

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

PMID: 26492593
Journal: Expert Review of Clinical Immunology
Year: 2015
Reference: Expert Rev Clin Immunol. 2015;11(12):1277-9. doi: 10.1586/1744666X.2015.1102632. Epub 2015 Oct 22.
Impact factor: 2.484
Publication type: Editorail in international publication
Authors: Selva-O'Callaghan, Albert, Alvarado-Cardenas, Marcelo, Marin, Ana, Pinal-Fernandez, Iago et al.
DOI: 10.1586/1744666X.2015.1102632

[Statins and autoimmunity].

PMID: 25662717
Journal: MEDICINA CLINICA
Year: 2015
Reference: Med Clin (Barc). 2015 Nov 6;145(9):399-403. doi: 10.1016/j.medcli.2014.11.017. Epub 2015 Feb 7.
Impact factor: 1.417
Publication type: Review in national publication
Authors: Lima Ruiz, Joan, Marin Sanchez, Ana, Alvarado Cardenas, Marcelo et al.
DOI: 10.1016/j.medcli.2014.11.017

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

PMID: 26361261
Journal: HORMONE AND METABOLIC RESEARCH
Year: 2015
Reference: Horm Metab Res. 2015 Sep;47(10):753-66. doi: 10.1055/s-0035-1559646. Epub 2015 Sep 11.
Impact factor: 2.121
Publication type: Paper in international publication
Authors: Gimenez-Barcons, M, Marin-Sanchez, A, Colobran, R, Pujol-Borrell, R et al.
DOI: 10.1055/s-0035-1559646

Graves' disease TSHR-stimulating antibodies (TSAbs) induce the activation of immature thymocytes: a clue to the riddle of TSAbs generation?

PMID: 25801430
Journal: JOURNAL OF IMMUNOLOGY
Year: 2015
Reference: J Immunol. 2015 May 1;194(9):4199-206. doi: 10.4049/jimmunol.1500183. Epub 2015 Mar 23.
Impact factor: 4.922
Publication type: Paper in international publication
Authors: Pujol-Borrell, Ricardo, Lucas-Martin, Ana, Tonacchera, Massimo, Fernandez-Doblas, Joaquin, Gimenez-Barcons, Mireia, Colobran, Roger, Gomez-Pau, Ana, Marin-Sanchez, Ana, Casteras, Anna, Obiols, Gabriel et al.
DOI: 10.4049/jimmunol.1500183

Improving current immunoglobulin therapy for patients with primary immunodeficiency: quality of life and views on treatment.

PMID: 24833896
Journal: PATIENT PREFER ADHER
Year: 2014
Reference: Patient Prefer Adherence. 2014 May 2;8:621-9. doi: 10.2147/PPA.S60771. eCollection 2014.
Impact factor: 1.491
Publication type: Paper in international publication
Authors: Espanol, Teresa, Prevot, Johan, Drabwell, Jose, Sondhi, Seema, Olding, Laurence et al.
DOI: 10.2147/PPA.S60771

Primary immune deficiencies - principles of care.

PMID: 25566243
Journal: Frontiers in immunology
Year: 2014
Reference: Front Immunol. 2014 Dec 15;5:627. doi: 10.3389/fimmu.2014.00627. eCollection 2014.
Impact factor: 0
Publication type: Review in international publication
Authors: Chapel, Helen, Prevot, Johan, Gaspar, Hubert Bobby, Espanol, Teresa, Bonilla, Francisco A, Solis, Leire, Drabwell, Josina et al.
DOI: 10.3389/fimmu.2014.00627

High-content cytometry and transcriptomic biomarker profiling of human B-cell activation.

PMID: 24012209
Journal: J ALLERGY CLIN IMMUN
Year: 2014
Reference: J Allergy Clin Immunol. 2014 Jan;133(1):172-80.e1-10. doi: 10.1016/j.jaci.2013.06.047. Epub 2013 Sep 5.
Impact factor: 11.248
Publication type: Paper in international publication
Authors: Marodi, Laszlo, Szaflarska, Anna, Sass, Mareike, Pignata, Claudio, Kilic, Sara Sebnem, Caragol, Isabel, Baumann, Ulrich, Klein, Christoph, Welte, Karl, Hansen, Gesine et al.
DOI: 10.1016/j.jaci.2013.06.047

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: J CLIN IMMUNOL
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: 2.654
Publication type: Paper in international publication
Authors: Guilarte, Mar, Hernandez-Gonzalez, Manuel, Colobran, Roger, Pujol-Borrell, Ricardo et al.
DOI: 10.1007/s10875-014-0042-3

Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients.

PMID: 23480186
Journal: CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Year: 2013
Reference: Clin Exp Immunol. 2013 Apr;172(1):63-72. doi: 10.1111/cei.12039.
Impact factor: 3.409
Publication type: Paper in international publication
Authors: Vidaller, A, Wong, G K, Goldacker, S, Winterhalter, C, Grimbacher, B, Chapel, H, Lucas, M, Alecsandru, D, McEwen, D, Quinti, I et al.
DOI: 10.1111/cei.12039

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: 33.287
Publication type: Letter whit IF
Authors: Pachon, Gisela, Caragol, Isabel, 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: 2.269
Publication type: Editorail in international publication
Authors: Garces, P, Garcia-Martin, F, Detkova, D, Espanol, T et al.
DOI:

[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: 0.57
Publication type: Paper in national publication
Authors: Martin-Nalda, A, Soler-Palacin, P, Espanol Boren, T, Caragol Urgelles, I, Diaz de Heredia Rubio, C, Figueras Nadal, C et al.
DOI: 10.1016/j.anpedi.2010.09.019

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: 5.054
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1097/MD.0b013e3181fdd832

[Spanish paediatric infectious diseases society consensus document on the treatment of fungal infections based on the immune response].

PMID: 20638349
Journal: ANALES DE PEDIATRIA
Year: 2010
Reference: An Pediatr (Barc). 2010 Dec;73(6):362.e1-8. Epub 2010 Jul 17.
Impact factor: 0.363
Publication type: Review in national publication
Authors: , , , , , , , et al.
DOI: 10.1016/j.anpedi.2010.04.016

A multi-centre study of efficacy and safety of Intratect((R)), a novel intravenous immunoglobulin preparation.

PMID: 20550545
Journal: CLINICAL AND EXPERIMENTAL IMMUNOLOGY
Year: 2010
Reference: Clin Exp Immunol. 2010 Sep;161(3):512-7. doi: 10.1111/j.1365-2249.2010.04187.x.
Impact factor: 3.009
Publication type: Paper in international publication
Authors: , , , , , et al.
DOI: 10.1111/j.1365-2249.2010.04187.x

X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options.

PMID: 20173115
Journal: BLOOD
Year: 2010
Reference: Blood. 2010 Apr 22;115(16):3231-8. Epub 2010 Feb 19.
Impact factor: 10.555
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1182/blood-2009-09-239087

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: 2.853
Publication type: Paper in international publication
Authors: Benslama, L, Plebani, A, Notarangelo, L, Pignata, C, Bangs, C, Lucas, M, Tierney, P, Core, C, Dempster, J, Knerr, V et al.
DOI: 10.1111/j.1365-2249.2009.03954.x

Chronic granulomatous disease: the European experience.

PMID: 19381301
Journal: PLoS One
Year: 2009
Reference: PLoS One. 2009;4(4):e5234.
Impact factor:
Publication type: Letter or abstract
Authors: van den Berg, J Merlijn, van Koppen, Elsbeth, Ahlin, Anders, Belohradsky, Bernd H, Bernatowska, Ewa, Corbeel, Lucien, Espanol, Teresa, Fischer, Alain, Kurenko-Deptuch, Magdalena, Mouy, Richard et al.
DOI: 10.1371/journal.pone.0005234

The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function.

PMID: 19307326
Journal: JOURNAL OF EXPERIMENTAL MEDICINE
Year: 2009
Reference: J Exp Med. 2009 Apr 13;206(4):735-42.
Impact factor: 15.219
Publication type: Paper in international publication
Authors: Draghici, Elena, Marangoni, Francesco, Bosticardo, Marita, Catucci, Marco, Aiuti, Alessandro, Cancrini, Caterina, Marodi, Laszlo, Espanol, Teresa, Bredius, Robbert G M, Thrasher, Adrian J et al.
DOI: 10.1084/jem.20081773

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 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.

Researchers have used an innovative protocol to identify people with this autoimmune disease who have a higher risk of cancer.

As age increases in men, the concentration of the hormone in the blood drops and this increases the likelihood of severe progression of the infection in COVID-19 patients

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