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Innate immunity errors
They are a heterogeneous group of rare diseases that affect the immune system (in number or function). Since they are a very heterogeneous group of diseases, both symptoms and treatments are very diverse.
Primary immunodeficiencies (PIDs) can affect 1 in 2,000 newborns. They are genetic diseases. Over 400 entities have been described. In some of these PIDs, the diagnosis can be made early, for example, in Catalonia, severe combined immunodeficiency can be found thanks to neonatal screening.
The symptoms are varied and range from repetition infections, which can be more or less serious, to autoimmunity problems, allergies or cancer.
Usually, a diagnosis is reached at a paediatric age in most cases. However, it can also debut in adulthood and, therefore, we must not disregard the possibility in an adult.
Through an initial approximation and a thorough clinical history, with some basic laboratory tests, a large number of them can be diagnosed in any field. However, an experienced team is key for reaching a definitive diagnosis. A good number of these studies are only carried out at reference centre laboratories.
The treatment of PIDs is very diverse. They can be divided into replacement treatment and curative treatment. The most common is a treatment that replaces part of the absent defences in the patients. This is done with periodic immunoglobulin treatments (intravenous or subcutaneous). However, there are other treatments such as antibiotic prophylaxis or immunomodulatory drugs that can help alleviate the shortcomings of the immune system. In the most serious forms, in addition to the replacement treatment, curative treatment can be offered through the replacement of the immune system cells with a of hematopoietic progenitors transplant or gene therapy.
In most PIDs, a blood test allows the first diagnostic step to be done. Since they are genetic diseases, in many cases, a DNA study makes it possible to find the exact mutation that is causing the disease.
It is very important to go to all the recommended check-ups and to adhere to the indicated treatments, as well as following a vaccination calendar adapted to each disease.
Almost all medical specialties are related to PIDs, since they affect the immune system and are present throughout the body. The ones that are usually most related to PIDs are: Paediatric Infectious Pathology and Immunodeficiency Unit, Immunology, Infectious diseases, Rheumatology, Internal medicine, Haematology, Dermatology, Pneumology, Gastroenterology, Hepatology (both adult and paediatric), Preventive Medicine, Genetics.
Sol·licitud d'interconsulta a distància
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