About Bubble Baby Syndrome

• ‘Bubble baby syndrome,’ known medically as Severe Combined Immunodeficiency (SCID) is very rare genetic disorder that causes life-threatening problems with the immune system.
• It is a type of primary immune deficiency.
• The disease is known as “living in the bubble” syndrome because living in a normal environment can be fatal to a child who has it. 
• What happens in SCID?
  • In a developing baby, the immune system starts in the bone marrow. Stem cells can become any of three different types of blood cells.
    • red blood cells
    • white blood cells
    • platelets
  • White blood cells (WBCs) protect the body from infections and foreign invaders. There are different kinds of WBCs, including lymphocytes.
  • Lymphocytes come in two main types: B-cells and T-cells. These cells are key to fighting infections.
    • T cells identify, attack, and kill “invaders.”
    • B cells make antibodies that “remember” an infection and are ready in case the body is exposed to it again.
  • SCID is a “combined” immunodeficiency because it affects both of these infection-fighting white blood cells.
  • In SCID, the child’s body has too few lymphocytes or lymphocytes that don’t work properly.
  • Because the immune system doesn’t work as it should, it can be difficult or impossible for it to battle the germs—viruses, bacteria, and fungi—that cause infections.
• Causes:
  • Inherited mutations in more than a different genes cause SCID.
  • This means one or both birth parents pass down the disease to their child.
• Symptoms: Babies with SCID may appear healthy at birth, but problems can start soon after, such as:
  • failure to thrive
  • chronic diarrhea
  • frequent, often serious respiratory infections
  • oral thrush (a type of yeast infection in the mouth)
  • other bacterial, viral, or fungal infections that can be serious and hard to treat.
• Treatment:
  • SCID is a pediatric emergency. Without treatment, babies are not likely to survive past their first birthday.
  • The most common treatment is a stem cell transplant (also called a bone marrow transplant). This means the child receives stem cells from a donor. The hope is that these new cells will rebuild the child’s immune system.