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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Severe combined immunodeficiency


Other Names for this Disease

  • Bubble boy disease
  • SCID
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Tests & Diagnosis

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How is severe combined immunodeficiency (SCID) diagnosed?

A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life:[1]

Eight or more ear infections
Two or more cases of pneumonia
Infections that do not resolve with antibiotic treatment for two or more months
Failure to gain weight or grow normally
Infections that require intravenous antibiotic treatment
Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver
Persistent thrush in the mouth or throat
A family history of immune deficiency or infant deaths due to infections

Diagnosis can be confirmed by blood tests. Blood tests show significantly lower-than-normal levels of T cells and antibodies.[1]  

For further details on diagnosis see the following Web pages:

The Primary Immunodeficiency Resource Center provides further details regarding diagnosis of SCID. Click on the embedded link to view the page.

An article from Medscape Reference provides detailed information on the diagnosis of SCID. Click on eMedicine Journal to view the page. You may need to register to view the article, but registration is free.

Last updated: 5/28/2014

References
  1. Learning about severe combined immunodeficiency (SCID). National Human Genome Research Institute. July 2010; http://www.genome.gov/13014325. Accessed 8/9/2011.


Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
  • Bonilla, Francisco A.  Development of Population-Based Newborn Screening for Severe Combined Immunodeficiency. Pediatrics 2006;118:S47.
Other Names for this Disease
  • Bubble boy disease
  • SCID
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.