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Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches

17th national competition for scientific and technical research

Rare diseases

Senior Researcher : Rebeca Pérez de Diego

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Research Centre or Institution : IdiPAZ, Instituto de Investigación Sanitaria del Hospital Universitario La Paz. Madrid.


According to the WHO, infectious diseases cause the highest death rate among children and young adults. Although primary immunodeficiencies (PIDs) have traditionally been defined as rare diseases caused by immune system defects, the suspicion now is that a high percentage of patients with serious infections in infancy have innate Mendelian defects in their immune system. The appearance every day of new genetic defects involved in the susceptibility to contract infections or ones involved in the working of the immune system make it necessary to reconsider the concept and relevance of study of the PIDs. The treatment and medical follow-up of these patients, the number of which is increasing continuously, is very expensive, while their quality of life is restricted. On the other hand, there is increasing evidence that shows there are differences between the human and murine immune systems; this is why PIDs are fundamental as regards understanding human immunology. It is now relatively simple to diagnose genes which are known to cause PIDs. The challenge now in the study of PIDs is to find new genetic causes. To this end, the "omic" era is an essential tool. The aim of this project is to find new genetic etiologies associated with patients with PIDs by using massive sequencing techniques; these studies will be followed by exhaustive cellular and molecular characterisation of the responsible gene and its role in the immune system. This project lies within the context of precision medicine aimed at accelerating the genetic diagnosis of the PID, thereby offering genetic advice to families and improving the treatment of PID patients, to define the best therapeutic options.

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