Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)
Research Program
Where we are
SJD Barcelona Children's Hospital
Related websites
SJD Barcelona Children's Hospital Our group studies childhood diseases caused by a dysfunction of the immune system such as primary and secondary immunodeficiencies, rheumatic, autoimmune and autoinflammatory diseases.
We were granted the AGAUR recognition (GRPRE 2017/SGR1547) in 2017 and retain it to date.
Research lines
- The main focuses of this team led by Dr Antón are autoimmune diseases (such as juvenile idiopathic arthritis, juvenile dermatomyositis or scleroderma), autoinflammatory diseases (genetic and epigenetic studies) and the aetiology of Kawasaki disease, with special interest in the role of the microbiome and environmental factors. This team has also participated in various clinical trials in systemic lupus erythematosus, juvenile idiopathic arthritis, ANCA-positive vasculitis and polyarteritis nodosa, and autoinflammatory diseases such as HIDS, TRAPS or colchicine-resistant Familial Mediterranean Fever.
- The team led by Dr Alsina focuses on primary or congenital immunodeficiencies and secondary immunodeficiencies, including 1) primary immunodeficiencies of the IL-12 / IFN-γ pathway, which generate susceptibility to intracellular infections (mycobacteria, leishmania and others); 2) primary immunodeficiencies with a predominant immune deregulation component (inflammation, lymphoproliferation, autoimmunity), paying particular attention to cells with a regulatory role (regulatory T and B lymphocytes); 3) immunodeficiencies secondary to the use of monoclonal antibodies (especially anti-TNF-α agents during pregnancy and their impact on the neonatal immune system development) and those caused by new cell therapies such as CART19. The aim is to gain a better understanding of the immune dysfunction in these three disease groups and to identify biomarkers and new therapeutic targets.
Scientific objectives
- To develop and validate cellular, transcriptomic and epigenetic biomarkers in immune-mediated diseases, both for diagnostic and monitoring purposes.
- To identify new genes associated with immune-mediated diseases, mainly in the group of primary and autoinflammatory immunodeficiencies.
- To identify new therapeutic targets for immune-mediated diseases.
Area/Field of expertise
The research carried out by our group is part of the study of the clinical, immunological, molecular and therapeutic aspects of paediatric immune-mediated diseases, focusing on primary immunodeficiencies, autoinflammatory diseases, rheumatic and autoimmune diseases.
We are a group of physicians from two complementary clinical areas, Rheumatology and Clinical Immunology, in addition to an immunologist and biologists, offering a more global approach to the questions posed by our research into immune-mediated diseases. In addition to using the most advanced methodologies in clinical research (pathological anatomy and imaging), our laboratory, in close collaboration with the Immunology Department of the Hospital Clínic Barcelona, has extensive experience in immunological studies (functional and genetic) aimed at the study of patients with immune-mediated and autoinflammatory diseases.
Group members
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Jefe de Grupo Senior
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Jefe de Grupo
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Investigador
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Investigador post-doc
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Investigador
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Investigador
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Investigador
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Ayudante de investigación
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Investigador
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Investigador
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Investigador pre-doc
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Investigador
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Laura Martinez Mifsut
Ayudante de investigación
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Investigador pre-doc
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Investigador
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Ayudante de investigación
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Ayudante de investigación
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Investigador post-doc
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Celia Martí Castellote
Investigador
Last Publications
- Jana Domínguez Carral, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function. ANNALS OF NEUROLOGY . 94(5): 987-1004.
- Armangue-Salvador T, Olivé-Cirera G, Martínez-Hernandez E, Rodes M, Peris-Sempere V, Guasp M, Ruiz R, Palou E, González A, Marcos MÁ, Erro ME, Bataller L, Corral-Corral Í, Planagumà J, Caballero E, Vlagea A, Chen J, Bastard P, Materna M, Marchal A, Abel L, Cobat A, Alsina L, Fortuny-Guasch C, Saiz A, Mignot E, Vanderver A, Casanova JL, Zhang SY and Dalmau J Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studies. BRAIN . 146(10): 4306-4319.
- Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Anton-Lopez J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L and Hernández-Rodríguez J Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study. CLINICAL AND EXPERIMENTAL RHEUMATOLOGY . 41(10): 2105-2114.
Projects
- Project name:
- Consorcio estatal en red para el desarrollo de medicamentos de terapias avanzadas (CERTERA)
- Leader
- Alessandra Magnani
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- CERT22/00008
- Starting - finishing date:
- 2024 - 2026
- Project name:
- Functional profiling array for primary immune regulatory disorders-research
- Leader
- Laia Alsina Manrique de Lara
- Funding entities:
- Pharming Group N.V.
- Code
- PCP00389
- Starting - finishing date:
- 2023 - 2025
- Project name:
- Estudio piloto de la creación de un commmand center clínico
- Leader
- Jordi Antón López
- Funding entities:
- Swedish Orphan Biovitrum, S.L.
- Code
- PCP00404
- Starting - finishing date:
- 2023 - 2024
Theses
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Immune system profile of newborns born to mothers treated with anti-TNF-a through pregnancy.
- Author
- Luo, Yiyi
- Institution
- UNIVERSIDAD DE BARCELONA
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Immune system profile of newborns born to mothers treated with TNF inhibitors through pregnancy
- Author
- Luo, Yiyi
- Institution
- UNIVERSIDAD DE BARCELONA
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Infección por SARS-CoV-2 en niños y adultos jóvenes con errores congénitos de la inmunidad: expresión clínica y esta inmune
- Author
- García García, Ana Pilar
- Institution
- UNIVERSIDAD DE BARCELONA
News
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Mutation in DOCK11 gene explains rare disorder in immune system regulation
Researchers from the Institut de Recerca Sant Joan de Déu - SJD Barcelona Children's Hospital participate in an international study, published in the prestigious scientific journal New England Journal of Medicine, which describes for the first time a new disease of the immune system caused by a mutation of the DOCK11 gene.
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Researchers discover a key factor that predicts COVID-19 disease severity
A study led by Drs. Laia Alsina and Iolanda Jordan from the IRSJD evidences a key factor that predicts the severity of COVID-19: an alteration of the first immune response to SARS-CoV-2 infection, in key molecules in the anti-infective response. The study has been published in open access in the journal iScience.
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The european ImmunAID project starts its clinical phase
The ImmunAID project aims to develop new diagnostic signatures for systemic auto-inflammatory diseases (SAID). Ultimately, the aim is to offer better care for these rare disease patients. Systemic auto-inflammatory diseases (SAID) are a complex and poorly understood group of rare diseases.
More activities
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Defensa tesi doctoral: Yiyi Luo
Aula 14 (Facultat Medicina · UB) and online
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Defensa tesi doctoral: Ana Pilar García García
Auditori Plaza, Hospital Sant Joan de Déu · Online