Archive - 11 January, 2016

Research for Primary Immunodeficiency Diseases

Research for Primary Immunodeficiency Diseases

Primary Immunodeficiency diseases (PIDD) are a defect in the immune system that is caused by a genetic alteration. People that suffer this defect in their immune system are more likely to suffer infections and these infections are more dangerous than normal.

Globally, 1 of 2.000 live births is born with some alteration in their immune system. The 90% of people that suffer some Immunodeficiency are diagnosed in childhood, usually in the first years of their life.

There are more than 200 kinds of Primary Immunodeficiency diseases which are classified in 8 big groups according to their characteristics. Unfortunately, there are great ignorance by population and the doctors who are the first to have to diagnose the disease, in other words, the paediatricians and primary care physicians.

The Infection in Immunocompromised Pediatric Patients group and the Immunology group at Vall d’Hebron Institute of Research (VHIR) have started to collect blood samples from patients with Primary Immunodeficiency Diseases in order to be a part of the Immunology Bank of the HUVH Biobank. The aim of the groups to collect and preserve blood samples from patients with rare diseases caused by PIDD in order to improve the identification techniques and for characterization of mutations of patients.

Research for Primary Immunodeficiency Diseases

The compilation of the blood samples from patients with Primary Immunodeficiency diseases will allow:

  • The Primary Immunodeficiency Diseases are a genetic defect inherited from father to sons; the research will allow counsel future gestations.
  • The research will allow that different cases will be reviewed and maybe get a final diagnosis that allow offering a new opportunity of treatment.
  • The research will also help to know the genetic defect that can suffer the patient. Nowadays, sometimes, a patient is diagnosed with PIDD but the doctors don’t know his genetic defects in his immune system.
  • A patient with PIDD may die because of this disease. If the researchers have a sample of this patient they may study why the defects in his immune system have caused his death.
  • The research will allow collaborating with other research centres both in the State and International level. Many kinds of PIDD are less frequently than others and it is necessary to study patients from other parts of the world. The collaboration is fundamental to help study and diagnose these rare diseases.

Thanks to the progress in research of this kind of diseases, a child called Didac, he is treated in the Vall d’Hebron Hospital, has been benefited. This is his story:

“Juan was a child who died because of suffers an immunodeficiency disease. Juan died days after his brother Didac was born. When Didac had 6 months, his doctor recommended to his parents go visit the doctors of Vall d’Hebron Hospital because his brother had died because of a immunodeficiency disease, this disease was genetic and maybe Didac could have the same disease of his brother. Ten days later, the doctors confirmed that Didac suffers a defect in his immune system.

Nowadays, Didac has 4 years and, thanks to the research of Primary Immunodeficiency Diseases, the doctors have found the mutation causing to Didac a genetic defect. Thanks to this, two month ago, a bone marrow transplant was made to Didac and now he is slowly recovering” – You can read more information about Didac here.

As you see, the future of Didac and many other children depends of the research. For this reason we encourage you to collaborate with Nicequest in the project that has the aim to help to continue researching to identify and characterize the different mutations that suffer the patients with Primary Immunodeficiency Diseases.

The Worldcoo team.

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