Severe Combined Immunodeficiency (SCID)

Severe combined immunodeficiency (SCID) is a disorder where a child is born without a functioning immune system and therefore lacks the ability to fight off infections. Without early detection and intervention, babies with SCID will suffer multiple infections and typically die before their first birthday. SCID includes a group of rare but serious and potentially fatal, inherited immune disorders in which T-lymphocytes fail to develop, and B-lymphocytes are either absent or decreased. Infections are usually serious. Untreated patients develop life-threatening infections due to bacteria, viruses, and fungi with average age at the onset of symptoms at 2 months. Typically, infants with SCID will die from infection by one year of age unless the infant's immune system is restored through treatment. Early detection through newborn screening and treatment can result in markedly improved survival rates.

Quick Facts

Newborn Screening

Real-Time PCR

Missouri newborn screening samples must only be collected on the Food and Drug Administration (FDA) approved blood collection forms that must be pre-purchased from the MSPHL. The optimum collection time is between 24 and 48 hours-of-age. The instructions for collecting the samples are listed on the back of the collection form. All 5 circles on the filter paper need to be filled with blood from one side and then air dried for at least 3 hours in a horizontal position without allowing the blood to touch any surface during drying, including other parts of the card (see image). 
See "Rules for Collection".

Store the dried blood samples at room temperature in the envelopes provided by the State Public Health Laboratory and transport within 24 hours of collection

Initial Screen (the red form) or Repeat Screen (the green form)

Included in kit

Normal: No action required.
Borderline Risk: Results are in the borderline risk range. Repeat the newborn screen is necessary.
High Risk: Results are in the high risk range. Final results are immediately sent to the Newborn Screening SCID coordinator. The SCID coordinator will contact the primary care provider immediately and provide instructions for follow up, along with the SCID results. It is important that the primary care provider follow the instructions and contact the pediatric immunologist for appropriate follow up testing and consultation.
No Results: Results for SCID were inconclusive. Please send a repeat newborn screening specimen as soon as possible, preferably no later than 1 week.
All final results are sent to the submitter and physician of record/primary care provider. 

Poor Quality Specimens

SCID results may not be as reliable in infants who are premature, sick, and/or transfused. A repeat newborn screen will be necessary. Follow the Missouri NICU guidelines.
Screening for SCID is not appropriate for SCID/Primary T-Cell lymphopenia in children older than 1 year of age. A "No result" will be given. If the child's clinical presentation could be due to SCID/Primary T-Cell lymphopenia, clinical evaluation is recommended.

1 to 3 working days after receipt of specimen

$95 charge - for full panel of screening disorders 

81479

N/A

Estimated prevalence is between 1:40,000 and 1:75,000