Study of Immune Deficiency Diseases in Paediatrics (GEMDIP)

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

  1. 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.
  2. 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

  1. To develop and validate cellular, transcriptomic and epigenetic biomarkers in immune-mediated diseases, both for diagnostic and monitoring purposes.
  2. To identify new genes associated with immune-mediated diseases, mainly in the group of primary and autoinflammatory immunodeficiencies.
  3. 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

Last Publications

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Projects

Project name:
Characterization of the nasopharyngeal microbiota in Kawasaki disease
Leader
Jordi Antón López
Funding entities:
Instituto de Salud Carlos III (ISCIII)
Code
PI20/00517
Starting - finishing date:
2021 - 2023
Project name:
Contrato predoctoral de formación en investigación en salud_Beneficiario: Yiyi Luo
Leader
Laia Alsina Manrique de Lara
Funding entities:
Instituto de Salud Carlos III (ISCIII)
Code
FI19/00208
Starting - finishing date:
2020 - 2023
Project name:
PIVIT_Construcció d’una sala blanca per al seu ús en teràpies avançades en pacients pediàtrics, dirigit principalment a la producció de vectors virals per a teràpia gènica
Leader
Manel Juan Otero, Laia Alsina Manrique de Lara
Funding entities:
Departament de Salut - Generalitat de Catalunya
Code
IU16-016824
Starting - finishing date:
2020 - 2021
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Theses

  • Implicació del mosaïcisme genètic en les immunodeficiències primàries
    Institution
    UNIVERSIDAD DE BARCELONA
    05/07/2018
  • Estudio de los defectos primarios y secundarios de la vía IL12-Interferón gamma-TNFalfa con susceptibilidad a la infección por microorganismos intracelulares
    Author
    Esteve Solé, Anna
    Institution
    UNIVERSIDAD DE BARCELONA
    18/05/2018
  • Estudi d´incidència, prevalença i característiques clíniques de la Malaltia de Kawasaki a Catalunya.
    Author
    Sánchez Manubens, Judith
    Institution
    UNIVERSIDAD DE BARCELONA
    25/04/2016
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News

  • 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.

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