What is Severe Combined Immunodeficiency Disease (SCID)?

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Copyright 2012 - Kris Heeter, Ph.D. (Reposting, copying, reprinting or reproducing this article in part or in full elsewhere online or offline is prohibited.)


Severe Combined Immunodeficiency Disease (SCID) or Syndrome is one of over 150 primary immunodeficiency diseases that have been identified.

Primary immune deficiency diseases are genetically inherited whereas secondary immune deficiency diseases are acquired after birth and typically caused by something like immune suppression drugs or viruses.

SCID is a rare but severe from of immunodeficiency that can impair the entire immune system at birth.

SCID is also known as:

  • Alymphocytosis
  • Glanzmann-Riniker Syndrome
  • Thymic Alymphopasia
  • Severe mixed immunodeficiency syndrome

Mutations in more than a dozen different genes have been linked to various forms of SCID.


SCID is one of the more serious immunodeficiency genetic disorders.

Severe combined immunodeficiency syndrome occurs in about one out of every 50,0000 to 100,000 births. If undiagnosed, SICD babies eventually develop severe life-threatening infections with a 100% mortality rate. Death usually occurs within the first year of life.

The genetic mutations linked to SCID lead to severe abnormalities of the development and function of the immune system. Babies with SCID lack almost all immune defenses due to a defect in white blood cells (impaired B cells and T cells).


The Boy In The Plastic Bubble Movie

The Boy in the Plastic Bubble was 1976 made-for-TV movie that was inspired by David Vetter and Ted DeVita.

The movie first aired on the ABC television network and starred John Travolta.

The film reportedly inspired the first song on Paul Simon's 1986 album, Graceland.

SCID Bubble Boy

Severe combined immunodeficiency disease or syndrome became widely known in the early 1970’s due to David Vetter. He became widely known as the “SCID bubble boy”.

David was able to live beyond infancy by living in a completely sterile environment. Thanks to David, SCID received national attention.

David Vetter and Ted DeVita (diagnosed with the autoimmune disease Aplastic Anemia) inspired what commonly became known as the "the boy in the bubble movie" - The Boy In The Plastic Bubble, starring John Travolta

Ironically, David did not die directly of SCID. In an attempt to live a normal life outside his sterile environment, he underwent an unsuccessful bone marrow transplant in 1984. He died at the age of 12 . David ended up contracting the Epstein-Barr virus through the transplant and died.


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Newborn Screening for SCID

In the 1970s, newborn screening for immunodeficiency diseases or syndromes like SCID did not exist. Babies born with severe immune impairment typically died as infants. David Vetter was a rare exception. Confined to a plastic bubble - a small sterile space and no contact with other humans - he was able to survive longer than more children diagnosed back then with this disease.

The good news is that as of March 2010, newborn screening for SCID became part of the national U.S. newborn screening guidelines adopted by Secretary of Health and Human Services. SCID is now included in the recommended newborn screening panel for 29 genetic disorders.

According to a research published in the journal Blood (2011) there are now improved survival rates with neonatal SCID diagnosis. Once diagnosed there are a couple of different approaches that can be taken to increase the the child's lifespan. The most common is a bone marrow transplant.

Unfortunately, not every state has adopted these screening guidelines. Babies are still dying due to this undiagnosed condition.

The status of screening in each state can be found in the U.S. National Screening Status Report. To stay current on the status of SCID newborn screening, updates found at The Immune Deficiency Foundation's website for Newborn Severe Combined Immunodeficiency Screening:

http://idfscidnewbornscreening.org/


Bone Marrow Transplant is Now the Most Common Treatment for SCID

The only known cure for SCID is a bone marrow transplant. A bone marrow transplant replaces the infant or child's abnormal blood-forming cells with healthy blood-forming cells from a compatible donor.

More specifically, hematopoietic stem cells are taken from healthy donor bone marrow and transplanted to the SCID patient. It is the hematopoietic stem cells that can form healthy blood cells.

According to the Immune Deficiency Foundation, babies born with SCID who receive a hematopoietic stem cell transplant (HSCT) soon after birth now have 94% survival rate.

For more information on bone marrow transplants for SCID or on how to become a registered bone marrow donor visit: The National Marrow Program


On The Horizon: Gene Therapy for SCID and other Autoimmune Disorders

Preliminary research using gene therapy suggests it may be effective in treating some immunodeficiency and autoimmune diseases.

In 2010, a collaboration between The Children's Hospital of Philadelphia and European gene therapy researchers used gene therapy on two young children with Wiskott-Aldrich syndrome. Notable improvements were noted in these children. Wiskott-Aldrich Syndrome is also a very rare but severe immunodeficiency disorder.

Gene therapy when combined with chemotherapy has been used in clinical trials on a limited number of SCID patients with a specific type of SCID (ADA-SCID). Results documented on these patients suggest that this combination has had some success.

Gene therapy continues to be researched further. The upside is that if it works, it could eliminate the wait for a bone marrow donor. Finding compatible bone marrow donors can be difficult.


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Comments 9 comments

billybuc profile image

billybuc 4 years ago from Olympia, WA

I am feeling a bit ignorant after reading this because I knew none of this information. Thank you for educating me; very well-written hub!


Kris Heeter profile image

Kris Heeter 4 years ago from Indiana Author

@billybuc - I'm still amazed at the number of different autoimmune diseases there are. I clearly remember the bubble boy movie in the 70's and how sad it was in the end. Back then there just wasn't much known about the disease and no way to screen for it. It wasn't until I ran across a recent research article on how another genetic mutation has been found that was linked to SCID that I decided to delve into the latest research to see how much more was known these days about the disease. Science has made some progress but there is still much more to learn!


billybuc profile image

billybuc 4 years ago from Olympia, WA

I had forgotten that movie! Thanks for the reminder and the great hub!


cherylone profile image

cherylone 4 years ago from Connecticut

I am so glad you shared this information. I am researching childhood illnesses because my granddaughter is very ill and we keep hearing about new things that might be affecting her. Thank you for this information.


Kris Heeter profile image

Kris Heeter 4 years ago from Indiana Author

@cherylone - you are welcome. There are so many autoimmune diseases and those can be difficult to diagnose. I have a friend whose daughter has been very ill too and it's taken a long time to find the right specialist who could really narrow it down. I hope you all can find some answers and help!


Pamela99 profile image

Pamela99 4 years ago from United States

As an RN, I love reading about new successful treatments and therapies. This was a very interesting hub. I am excited to see where stem cell therapy leads up with a multitude of diseases also. Voted up and interesting.


Kris Heeter profile image

Kris Heeter 4 years ago from Indiana Author

@Pamela99 - thanks for stopping by. It is interesting to see gene therapy still being explored. At one point it was considered the "holy grail" that held promise to cure many diseases and then it seemed to stall as there were many of unforeseen problems and hurdles.


phdast7 profile image

phdast7 4 years ago from Atlanta, Georgia

Wonderfully informative Hub as usual. I knew about the boy in the bubble, but had no idea that the fatality rate was 100% for SCID babies. And how amazing that survival rates are 94% with bone marrow transplants. Thank you for another excellent article. Theresa


Kris Heeter profile image

Kris Heeter 4 years ago from Indiana Author

@phdast7 - I was also amazed at the survival rate now. I remember when that movie came out and how sad it was and there seemed to be no hope for those with SCID.

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