Severe Combined Immunodeficiency Syndrome (SCID) encompasses a group of diseases present from birth, characterized by a change in the immune system, in which antibodies are at low levels and lymphocytes are weak or absent, which makes the body unable to protect itself from infection. , which puts the baby at risk and can 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 a bone marrow transplant.
- SCID is used to classify a group of diseases that can be caused by genetic defects linked to the X chromosome and also by a deficiency of the enzyme ADA.
Symptoms of SCID usually appear in the first year of life and may include infectious diseases that do not respond to treatment such as pneumonia, meningitis or sepsis, which are difficult to treat and usually do not respond to treatment. use of medications, as well as skin infections, fungal infections. in the mouth and diaper area, diarrhea and liver infection.
Diagnosis is made when the child has recurrent infections, which are not resolved with treatment, since the disease is hereditary, if a family member has this syndrome, the doctor will be able to diagnose the disease as soon as the baby is born. which involves performing blood tests to evaluate levels of antibodies and T cells.
The most effective treatment for SCID is a bone marrow stem cell transplant 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 other people who could be a source of infection.
The child may also undergo an immunodeficiency correction with immune globulin replacement, which should only be given to children older than 3 months and / or who have already contracted infections.
In children with SCID caused by ADA enzyme deficiency, the doctor may recommend enzyme replacement therapy, with a weekly application of functional ADA, which allows rebuilding of the immune system about 2 to 4 months after the start of treatment.
In addition, it is important to mention that these children should not be given vaccines that contain live or attenuated viruses, until the doctor orders otherwise.