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Researcher Finds Bubble Boy Disease is Underdiagnosed in Infants

August 19, 2014 By Deborah Cobing Leave a Comment

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Severe combined immunodeficiency (SCID) is a condition caused by a rare birth defect. Most people recognize the condition as the Bubble Boy disease. David Vetter was born in 1971 in Texas and lived until 12 years old in a plastic bubble which protected him from getting in touch with germs.

After a meta-analysis, Dr. Jennifer Puck, a pediatric immunologist at Benioff Children’s Hospital at the University of California, San Francisco, reached the conclusion that the Bubble Boy disease is more common than previously thought.

Right now 23 states screen newborns for SCID. So Puck had enough data to have a second thorough look at. Puck analyzed 10 million screenings from 10 states and Navajo Nation. All the babies were born between 2008 and 2013.

SCID is a complex of conditions having their roots in genetics. In the case of SCID disorders, the genes fighting against infections are not working properly. Thankfully, the disorder can be treated. The child can grow with a functioning immune system with the help of bone marrow transplants and gene therapy.

Because in four fifths of the cases the disorder was not present at any other family members, SCID can be fatal because regular infections may indicate the presence of gene defects when it is too late.

The immune system is at the core of many incurable or hardly curable diseases. The complexity of the system makes it hard for doctors to find adequate cures. Because a man suffered from two immune attacking diseases, Lupus and AIDS, doctors had a chance to observe the rare combination and an anti-HIV treatament may be developed soon.

Bubble Boy disease is more common than believed

In the study undertaken by Dr. Puck, one in 58.000 infants presented SCID. Priorly, scientists believed that only one in 100.000 infants is born with the disorder. So Dr. Puck argues that in states where there is no mandatory screening for SCID, infants with the disorder may die from subsequent infections.

bubble boy disease is twice more common than thought

From the 3 million cases, Puck found 52 babies suffering from SCID disorder. After the treatment began, 45 of them survived. Three other babies did not make it until the treatment because of the Bubble Boy disease.

“Greater standardization of the newborn screening test for SCID is needed. The test and follow-up must be conducted in a timely manner to save lives. However, newborn screening in the United States is not keeping pace with advances in technology,” Dr. Neil Holtzman, a professor emeritus in the department of pediatrics at Johns Hopkins University added in an editorial in the same journal number, Health Day News reports.

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Filed Under: Health Tagged With: bubble boy disease, SCID, Severe combined immunodeficiency

About Deborah Cobing

The two C’s that best describe Deborah are calm and calculated. When she was younger she was fiercely determined to become a doctor. That was until she actually got into medicine school. After two years of university she realized that she wasn’t quite cut out for the job. She quickly halted her studies and decided to pursue a career in writing instead.

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