What is SCID?
Children with the rare genetic birth defect SCID, severe combined immunodeficiency disease, do not have a functioning immune system. These children have no protection against diseases without intervention. This is life-threatening because they are susceptible to the habits of infections. Children usually die before their first year of life. The disease is caused by an error in the DNA.
Due to the error in the DNA, the disease is present in all cells of the body. SCID is a collective name for a heterogeneous group of hereditary, congenital abnormalities of the immune system, the immune system. Children who are born with this are called immunocompromised, in both B-cell and T-cell immunity disorders. The disease is also called ‘boy in the bubble syndrome’, because the patients are so extremely susceptible to infectious diseases that they have to live in a sterile air bubble. There is a known patient with SCID, his name is David Vetter. Due to the defects in the DNA no antibodies can be made. Antibodies you need to attack infections. About 50-70% of the patients with SCID do have natural killer cells, a third type of immune cells. These cells offer some protection against infections. The disease course is less serious in these children.
The classic form of SCID occurs in about 1 in 65,000 children. There is still no standard test available to demonstrate SCID in newborns because there are many variations in the genetic defect. Sometimes it can be quickly recognized if it occurs in a certain family line. In the other cases it is often only diagnosed when the children are 6 months, because they are then recognized by recurrent infections.
Children with SCID have chronic diarrhea, ear infections, recurrent pneumonias and fungal infections. The patients die as a result of these serious recurrent infections, not the defect itself. The symptoms of SCID do not occur immediately after birth, because the children still have antibodies, immune cells, of their mother in their blood, in the first weeks after birth the babies seem healthy.