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Severe combined immunodeficiency
Other Names for this Disease
- Bubble boy disease
- Severe combined immunodeficiency with sensitivity to ionizing radiation
- Severe combined immunodeficiency, atypical
- X-linked severe combined immunodeficiency
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Tests & Diagnosis
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- 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.