Severe Combined Immunodeficiency (SCID)

Most of us have an idea of what the rare genetic disorder Severe Combined Immunodeficiency (SCID) is, thanks to a popular 1976 movie. “The Boy in the Plastic Bubble” featured a young John Travolta as Todd, a brave boy born without a functional immune system; due to his condition, he was forced to spend his life surrounded by a protective “bubble.” The movie was based on the true story of a child with SCID.

While the movie’s depiction of SCID wasn’t far off, it didn’t tell the complete story of what kids with the illness face. In addition, major medical advances since the time of the film’s release have made a huge difference for children with this disorder and their families.

SCID is actually a group of several different diseases. There are more than 10 documented types of SCID, all of which:

• are present at birth
• involve missing T cells (white blood cells that identify and attack perceived “invaders”)
• affect the function of the B cells (white blood cells that produce antibodies against infection)

Because SCID all but knocks out a child’s immune system – the body’s built-in defense against infection – children with SCID are at high risk of developing conditions like:

• pneumonia
• meningitis
• chronic diarrhea
• ear infections
• thrush infections

Although SCID remains a very serious illness, treatment options have come a long way since the debut of “The Boy in the Plastic Bubble.” New approaches in diagnosing and managing the disorder are providing new hope for children and families.

How Children’s Hospital Boston approaches SCID

Children’s has a long history of caring for children with complex disorders of the immune system. Clinicians in our Division of Allergy and Immunology are international leaders in understanding and treating rare conditions like SCID.

Many children with SCID need a stem cell transplant (also known as a bone marrow transplant) so that their stem cells can develop into new white blood cells, replenishing their immune systems. The Dana-Farber/Children's Hospital Cancer Center (DF/CHCC) Pediatric Stem Cell Transplantation Program – one of the first pediatric transplant centers in the nation – performs about 80 stem cell transplants each year. Our specialists not only conduct groundbreaking stem cell research and devise exciting new treatments; they also have a unique understanding of the special needs of the youngest, smallest patients.

In addition, Children’s is helping to lead an international gene therapy trial for SCID. The trial – which transplants genetically modified stem cells from a child’s own bone marrow – may signify a promising new approach to fighting and defeating the disease.

SCID: Reviewed by Luigi Notarangelo, MD
© Children’s Hospital Boston; posted in 2011