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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

Janire Perurena Prieto

Janire Perurena Prieto

Predoctoral researcher
Translational Immunology
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Janire Perurena Prieto

Janire Perurena Prieto

Predoctoral researcher
Translational Immunology
Read more

Projects

Caracterización de Neisseria meningitidis tras la introducción de la vacuna frente al serogrupo B e identificación de factores predisponentes para la enfermedad meningocócica invasiva

IP: Juan Jose Gonzalez Lopez
Collaborators: Manuel Hernández González, Jose Angel Rodrigo Pendás, Maria Belén Viñado Perez, Aina Aguiló Cucurull, Alba Mir Cros, Albert Moreno Mingorance, Andrea Martín Nalda, Nuria Serre Delcor, Josep Roca Grande, Laura Batlle Masó
Funding agency: Instituto de Salud Carlos III
Funding: 123420
Reference: PI21/00132
Duration: 01/01/2022 - 30/06/2026

Publications

Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.

PMID: 39081726
Journal: Kidney International Reports
Year: 2024
Reference: Kidney Int Rep. 2024 Apr 17;9(7):2227-2239. doi: 10.1016/j.ekir.2024.04.022. eCollection 2024 Jul.
Impact factor:
Publication type: Paper in international publication
Authors: Agraz, Irene; Ariceta, Gema; Bestard, Oriol; Hernandez-Gonzalez, Manuel; Jacobs-Cacha, Conxita; Leon-Roman, Juan; Llorens-Cebria, Carmen; Lopez, Mercedes; Martin, Maria; Moreso, Francesc et al.
DOI: 10.1016/j.ekir.2024.04.022

Expanding the landscape of systemic sclerosis-related autoantibodies through RNA immunoprecipitation coupled with massive parallel sequencing.

PMID: 39500147
Journal: JOURNAL OF AUTOIMMUNITY
Year: 2024
Reference: J Autoimmun. 2024 Nov 4;149:103328. doi: 10.1016/j.jaut.2024.103328.
Impact factor:
Publication type: Paper in international publication
Authors: Andres-Leon, Eduardo; Batlle-Maso, Laura; Codina-Clavaguera, Claudia; Colobran, Roger; Gordillo-Gonzalez, Fernando; Guillen-Del-Castillo, Alfredo; Martin, Javier; McHugh, Neil J; Perurena-Prieto, Janire; Pujol, Ricardo et al.
DOI: 10.1016/j.jaut.2024.103328

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

PMID: 39579173
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2024
Reference: J Clin Immunol. 2024 Nov 23;45(1):47. doi: 10.1007/s10875-024-01833-3.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilo-Cucurull, Aina; Antolin, Maria; Batlle-Maso, Laura; Colobran, Roger; Dieli-Crimi, Romina; Franco-Jarava, Clara; Garcia-Prat, Marina; Martinez-Gallo, Monica; Moushib, Laith; Parra-Martinez, Alba et al.
DOI: 10.1007/s10875-024-01833-3

Long-Term Effectiveness and Safety of Proactive Therapeutic Drug Monitoring of Infliximab in Paediatric Inflammatory Bowel Disease: A Real-World Study.

PMID: 39771556
Journal: Pharmaceutics
Year: 2024
Reference: Pharmaceutics. 2024 Dec 10;16(12):1577. doi: 10.3390/pharmaceutics16121577.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez Beltran, Marina; Cabanas Poy, Maria Josep; Clemente Bautista, Susana; Garcia Garcia, Sonia; Gorgas Torner, Maria Queralt; Larrosa Garcia, Maria; Miarons, Marta; Padulles-Zamora, Nuria; Sanz-Martinez, Maria Teresa; Segarra Canton, Oscar et al.
DOI: 10.3390/pharmaceutics16121577

First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.

PMID: 37696499
Journal: BRITISH JOURNAL OF HAEMATOLOGY
Year: 2023
Reference: Br J Haematol. 2023 Sep 11. doi: 10.1111/bjh.19050.
Impact factor:
Publication type: Letter or abstract
Authors: Bandini, Perla; Bandini, Perla; Borras, Nina; Cadahia Fernandez, Patricia; Comes, Natalia; Corrales, Irene; Fernandez Mellid, Eugenia; Martin-Fernandez, Laura; Melero Valentin, Paula; Perez Encinas, Manuel Mateo et al.
DOI: 10.1111/bjh.19050

Anti-nuclear valosin-containing protein-like autoantibody is associated with calcinosis and higher risk of cancer in systemic sclerosis.

PMID: 37769243
Journal: RHEUMATOLOGY
Year: 2023
Reference: Rheumatology (Oxford). 2023 Sep 28:kead520. doi: 10.1093/rheumatology/kead520.
Impact factor:
Publication type: Paper in international publication
Authors: Callejas-Moraga, Eduardo Luis; Callejas-Moraga, Eduardo Luis; Colobran, Roger; Colobran, Roger; Del-Castillo, Alfredo Guillen-; Del-Castillo, Alfredo Guillen-; Perurena-Prieto, Janire; Sanz-Martinez, Maria Teresa; Selva-O'Callaghan, Albert; Selva-O'Callaghan, Albert et al.
DOI: 10.1093/rheumatology/kead520

Single-cell multi-omics analysis of COVID-19 patients with pre-existing autoimmune diseases shows aberrant immune responses to infection.

PMID: 37799110
Journal: EUROPEAN JOURNAL OF IMMUNOLOGY
Year: 2023
Reference: Eur J Immunol. 2023 Oct 6:e2350633. doi: 10.1002/eji.202350633.
Impact factor:
Publication type: Paper in international publication
Authors: Andres-Leon, Eduardo; Arutyunyan, Anna; Ballestar, Esteban; Barmada, Anis; Calero-Nieto, Fernando J; Carrascosa, Jose Manuel; Carrillo, Jorge; Casafont-Sole, Ivette; Ciudad, Laura; de la Calle-Fabregat, Carlos et al.
DOI: 10.1002/eji.202350633

Hormonal control during infancy and testicular adrenal rest tumor development in CAH males - a retrospective multi-center cohort study.

PMID: 37837609
Journal: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Year: 2023
Reference: Eur J Endocrinol. 2023 Oct 14:lvad143. doi: 10.1093/ejendo/lvad143.
Impact factor:
Publication type: Paper in international publication
Authors: Adriaansen, Bas P H; Ahmed, S Faisal; Ali, Salma R; Amr, Nermine Hussein; Bachega, Tania A S S; Baronio, Federico; Birkebaek, Niels Holtum; Bonfig, Walter; Bryce, Jillian; Cardona, Victoria et al.
DOI: 10.1093/ejendo/lvad143

A first update on mapping the human genetic architecture of COVID-19.

PMID: 35922517
Journal: NATURE
Year: 2022
Reference: Nature. 2022 Aug;608(7921):E1-E10. doi: 10.1038/s41586-022-04826-7. Epub 2022 Aug 3.
Impact factor:
Publication type: Letter or abstract
Authors: Abd Elghafar, Mohamed S; Abdel-Aziz, Mahmoud; Abdollahi, Hamed; Abdullah, Tala; Abecasis, Goncalo R; Abedalthagafi, Malak; Abul-Husn, Noura S; Acquilini, Donatella; Adams, Emma L; Adamsara, Alireza et al.
DOI: 10.1038/s41586-022-04826-7

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

PMID: 34666900
Journal: MEDICINA CLINICA
Year: 2022
Reference: Med Clin (Barc). 2022 Aug 12;159(3):116-123. doi: 10.1016/j.medcli.2021.09.013. Epub 2021 Sep 25.
Impact factor:
Publication type: Paper in national 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.medcli.2021.09.013

Exposing and Overcoming Limitations of Clinical Laboratory Tests in COVID-19 by Adding Immunological Parameters; A Retrospective Cohort Analysis and Pilot Study.

PMID: 35844497
Journal: Frontiers in Immunology
Year: 2022
Reference: Front Immunol. 2022 Jun 29;13:902837. doi: 10.3389/fimmu.2022.902837. eCollection 2022.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Antonio; Alvarez, Antonio; Alvarez-Sierra, Daniel; Anton, Andres; Arrese-Munoz, Iria; Bas-Minguet, Jordi; Blanco-Grau, Albert; Blanco-Grau, Albert; Bosch-Nicolau, Pau; Buzon, Maria Jose et al.
DOI: 10.3389/fimmu.2022.902837

Endotoxin and Cytokine Sequential Hemoadsorption in Septic Shock and Multi-Organ Failure.

PMID: 34515070
Journal: BLOOD PURIFICATION
Year: 2022
Reference: Blood Purif. 2022;51(7):630-633. doi: 10.1159/000518229. Epub 2021 Sep 7.
Impact factor:
Publication type: Letter or abstract
Authors: Chiscano-Camon, Luis; Ferrer, Ricard; Gonzalez, Juan Jose; Hernandez-Gonzalez, Manuel; Larrosa, Nieves; Palmada, Clara; Perez-Carrasco, Marcos; Ruiz-Rodriguez, Juan Carlos; Ruiz-Sanmartin, Adolf et al.
DOI: 10.1159/000518229

Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.

PMID: 34630398
Journal: Frontiers in Immunology
Year: 2021
Reference: Front Immunol. 2021 Sep 23;12:723836. doi: 10.3389/fimmu.2021.723836. eCollection 2021.
Impact factor:
Publication type: Letter whit IF
Authors: Alsina, Laia; Celis, Veronica Paola; Colobran, Roger; Dapena, Jose Luis; de la Cruz, Xavier; Martinez-Gallo, Monica; Rincon, Rafael; Sayos, Joan; Vinas-Gimenez, Laura et al.
DOI: 10.3389/fimmu.2021.723836

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 PandemicAssociated Pernio.

PMID: 34561087
Journal: JOURNAL OF INVESTIGATIVE DERMATOLOGY
Year: 2021
Reference: J Invest Dermatol. 2021 Dec;141(12):2791-2796. doi: 10.1016/j.jid.2021.05.024. Epub 2021 Jul 15.
Impact factor:
Publication type: Review in international publication
Authors: Abel, Laurent; Aiuti, Alessandro; Al-Muhsen, Saleh; Andreakos, Evangelos; Arkin, Lisa M; Asgari, Samira; Belot, Alexandre; Bolze, Alexandre; Bondarenko, Anastasiia; Brodin, Petter et al.
DOI: 10.1016/j.jid.2021.05.024

Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona.

PMID: 34570326
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2021
Reference: J Clin Immunol. 2021 Nov;41(8):1733-1744. doi: 10.1007/s10875-021-01136-x. Epub 2021 Sep 27.
Impact factor:
Publication type: Paper in international publication
Authors: Antoli, Arnau; Bastard, Paul; Boza-Hernandez, Enric; Calatayud, Laura; Casanova, Jean-Laurent; Colobran, Roger; Corbella, Xavier; Framil, Mario; Fuset-Cabanes, Maria-Paz; Gordillo-Benitez, Miguel-Angel et al.
DOI: 10.1007/s10875-021-01136-x

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.

PMID: 34413139
Journal: Science Immunology
Year: 2021
Reference: Sci Immunol. 2021 Aug 19;6(62). pii: 6/62/eabl4340. doi: 10.1126/sciimmunol.abl4340.
Impact factor:
Publication type: Paper in international publication
Authors: Abad, Jorge; Abel, Laurent; Abel, Laurent; Abel, Laurent; Abel, Laurent; Abou Tayoun, Ahmad; Accordino, Giulia; Achille, Cristian; Aguilera-Albesa, Sergio; Aguilo-Cucurull, Aina et al.
DOI: 10.1126/sciimmunol.abl4340

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

PMID: 32972995
Journal: SCIENCE
Year: 2020
Reference: Science. 2020 Oct 23;370(6515). pii: science.abd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24.
Impact factor:
Publication type: Paper in international publication
Authors: Abad, Jorge; Abel, Laurent; Abel, Laurent; Abel, Laurent; Aguilera-Albesa, Sergio; Aiuti, Alessandro; Akcan, Ozge Metin; Al Muhsen, Saleh; Al Turki, Saeed; Al-Muhsen, Saleh Zaid et al.
DOI: 10.1126/science.abd4570

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:
Publication type: Paper in international publication
Authors: Abad-Molina, Cristina; Aguilar, Marta; Almeida, Delia; Boix, Francisco; Cantenys, Sergi; Cunill, Vanesa; Fernandez, Luis; Gil, Juana; Gonzalez-Martinez, Gema; Hernandez, Manuel et al.
DOI: 10.1186/s12979-020-00194-w

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

PMID: 32671674
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2020
Reference: J Clin Immunol. 2020 Oct;40(7):987-1000. doi: 10.1007/s10875-020-00794-7. Epub 2020 Jul 15.
Impact factor:
Publication type: Paper in international publication
Authors: Alsina, Laia; Anton, Maria Carmen; Arostegui, Juan I; Basagana, Maria; Bull, Daniel; Bunney, Tom D; Casals, Ferran; Colobran, Roger; Deya, Angela; Esteve-Sole, Ana et al.
DOI: 10.1007/s10875-020-00794-7

Polyendocrine autoimmune syndromes reveal mechanisms of tolerance and autoimmunity.

PMID: 31757393
Journal: MEDICINA CLINICA
Year: 2020
Reference: Med Clin (Barc). 2020 Jun 12;154(11):444-446. doi: 10.1016/j.medcli.2019.10.003. Epub 2019 Nov 19.
Impact factor:
Publication type: Editorial in national publication
Authors: Colobran Oriol, Roger; Pujol-Borrell, Ricardo et al.
DOI: 10.1016/j.medcli.2019.10.003

Extended immunophenotyping reference values in a healthy pediatric population.

PMID: 30334372
Journal: CYTOMETRY PART B-CLINICAL CYTOMETRY
Year: 2019
Reference: Cytometry B Clin Cytom. 2019 May;96(3):223-233. doi: 10.1002/cyto.b.21728. Epub 2018 Oct 17.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilo-Cucurull, Aina; Alvarez-Sierra, Daniel; Briongos-Sebastian, Sara; Colobran, Roger; Franco-Jarava, Clara; Garcia-Prat, Marina; Hernandez-Gonzalez, Manuel; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Montserrat, Isabel et al.
DOI: 10.1002/cyto.b.21728

eDiVA - Classification and Prioritization of Pathogenic Variants for Clinical Diagnostics.

PMID: 31026367
Journal: HUMAN MUTATION
Year: 2019
Reference: Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21.
Impact factor:
Publication type: Paper in international publication
Authors: Bezdan, Daniela; Bosio, Mattia; Colobran, Roger; Domenech Salgado, Laura; Drechsel, Oliver; Estivill, Xavier; Hor, Hyun-Gyu; Macaya, Alfons; Munell, Francina; Muyas, Francesc et al.
DOI: 10.1002/humu.23772

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

PMID: 30995915
Journal: Orphanet Journal of Rare Diseases
Year: 2019
Reference: Orphanet J Rare Dis. 2019 Apr 17;14(1):82. doi: 10.1186/s13023-019-1046-0.
Impact factor:
Publication type: Paper in international publication
Authors: Arias-Salgado, Elena G; Badell-Serra, Isabel; Bastos-Oreiro, Mariana; Carrillo, Jaime; Catala, Albert; Diaz-Heredia, Cristina; Galera-Minarro, Ana; Galvez, Eva; Gonzalez-Granado, Luis I; Iarriccio, Laura et al.
DOI: 10.1186/s13023-019-1046-0

ONE-STEP NUCLEIC ACID AMPLIFICATION FOR INTRAOPERATIVE ANALYSIS OF SENTINEL LYMPH NODE IN PAPILLARY THYROID CARCINOMA.

PMID: 30400049
Journal: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Year: 2019
Reference: Eur J Endocrinol. 2019 Jan 1;180(1):21-29. doi: 10.1530/EJE-18-0624.
Impact factor:
Publication type: Paper in international publication
Authors: Castell, Joan; Caubet, Enric; Fort, Jose M; Garcia-Burillo, Amparo; Gonzalez, Oscar; Iglesias Felip, Carmela; Mesa, Jordi; Pujol-Borrell, Ricardo; Ramon Y Cajal, Santiago; Roca, Isabel et al.
DOI: 10.1530/EJE-18-0624

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

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

Novel risk factors related to cancer in scleroderma.

PMID: 28285170
Journal: AUTOIMMUNITY REVIEWS
Year: 2017
Reference: Autoimmun Rev. 2017 May;16(5):461-468. doi: 10.1016/j.autrev.2017.03.012. Epub 2017 Mar 8.
Impact factor: 8.961
Publication type: Review in national publication
Authors: Simeon-Aznar, Carmen Pilar, Fonollosa-Pla, Vicent, Bernal-Bello, David, de Tena, Jaime Garcia, Guillen-Del Castillo, Alfredo, Selva-O'Callaghan, Albert, Callejas-Moraga, Eduardo L, Marin-Sanchez, Ana Maria et al.
DOI: 10.1016/j.autrev.2017.03.012

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

PMID: 26748374
Journal: CLINICAL IMMUNOLOGY
Year: 2016
Reference: Clin Immunol. 2016 Feb;163:60-5. doi: 10.1016/j.clim.2015.12.014. Epub 2015 Dec 31.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez de la Campa, Elena; Colobran, Roger; de la Cruz, Xavier; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Pujol-Borrell, Ricardo; Soler-Palacin, Pere et al.
DOI: 10.1016/j.clim.2015.12.014

CD26/DPPIV inhibition alters the expression of immune response-related genes in the thymi of NOD mice.

PMID: 26911933
Journal: MOLECULAR AND CELLULAR ENDOCRINOLOGY
Year: 2016
Reference: Mol Cell Endocrinol. 2016 May 5;426:101-12. doi: 10.1016/j.mce.2016.02.014. Epub 2016 Feb 18.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso, Nuria; Ampudia, Rosa Maria; Carrascal, Jorge; Colobran, Roger; Julian, Maria Teresa; Minarro, Antoni; Puig-Domingo, Manel; Pujol-Autonell, Irma; Rodriguez-Fernandez, Silvia; Sanchez, Alex et al.
DOI: 10.1016/j.mce.2016.02.014

[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

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

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

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

PMID: 24412907
Journal: CLIN IMMUNOL
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: 3.992
Publication type: Paper in international publication
Authors: Colobran, Roger, Lois, Sergio, de la Cruz, Xavier, Pujol-Borrell, Ricardo, Hernandez-Gonzalez, Manuel, Guilarte, Mar et al.
DOI: 10.1016/j.clim.2013.11.013

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

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

Role of TNFRSF13B variants in patients with common variable immunodeficiency.

PMID: 19779048
Journal: BLOOD
Year: 2009
Reference: Blood. 2009 Sep 24;114(13):2846-8.
Impact factor:
Publication type: Letter or abstract
Authors: Alvarez, Antonio; Arostegui, Juan I; de Gracia, Javier; Detkova, Drahomira; Espanol, Teresa; Hernandez, Manuel; Martinez-Pomar, Natalia; Matamoros, Nuria; Sampalo, Almudena; Soler-Palacin, Pere et al.
DOI: 10.1182/blood-2009-05-213025

Visceral leishmaniasis associated hemophagocytic syndrome in patients with chronic granulomatous disease.

PMID: 19633526
Journal: PEDIATRIC INFECTIOUS DISEASE JOURNAL
Year: 2009
Reference: Pediatr Infect Dis J. 2009 Aug;28(8):753-4.
Impact factor:
Publication type: Paper in international publication
Authors: Caragol, Isabel; Espanol, Teresa; Figueras, Concepcion; Hernandez, Manuel; Marques, Laura; Martin, Andrea; Soler-Palacin, Pere et al.
DOI: 10.1097/INF.0b013e31819c6f3a

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

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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.