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What is scid (severe combined immunodeficiency syndrome)

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Severe Combined Immunodeficiency Syndrome (SCID) encompasses a set of diseases present since birth, which are characterized by a change in the immune system, in which antibodies are low and lymphocytes are low or absent, making the body unable to protect against infections, putting the baby at risk, and may even lead to death.

The most common symptoms of the disease are caused by infectious diseases and the treatment that cures the disease consists of bone marrow transplantation.

Possible causes

SCID is used to classify a set of diseases that can be caused by genetic defects linked to the X chromosome and also by deficiency of the ADA enzyme.

What symptoms

Symptoms of SCID usually appear during the first year of life and can include infectious diseases that do not respond to treatment such as pneumonia, meningitis or sepsis, which are difficult to treat and generally do not respond to the use of medication, and skin infections, yeast infections in the mouth and diaper region, diarrhea and liver infection.

What is the diagnosis

The diagnosis is made when the child suffers recurrent infections, which are not resolved with treatment. As the disease is hereditary, if any member of the family suffers from this syndrome, the doctor will be able to diagnose the disease as soon as the baby is born, which consists of carrying out blood tests to assess the levels of antibodies and T cells.

How the treatment is done

The most effective treatment for SCID is the transplantation of bone marrow stem cells from a healthy and compatible donor, which in most cases cures the disease.

Until a compatible donor is found, treatment consists of resolving the infection and preventing new infections by isolating the child to avoid contact with others who could be a source of contagion of diseases.

The child may also be subjected to an immunodeficiency correction through immunoglobulin replacement, which should only be administered to children older than 3 months and / or who have already contracted infections.

In the case of children with SCID caused by deficiency of the ADA enzyme, the doctor may indicate an enzyme replacement therapy, with weekly application of functional ADA, which provides for the reconstitution of the immune system in about 2-4 months after the start of therapy.

In addition, it is also important to mention that vaccines with live or attenuated viruses should not be given to these children, until the doctor orders otherwise.

What is scid (severe combined immunodeficiency syndrome)