What kind of test is used to screen for SCID?
The screening test currently being used across states uses the same dried blood samples already collected from newborns. The TREC test is an assay that detects the number of T-cell Receptor Gene Excision Circles, or TRECs, that are produced during normal T-cell maturation, but that are absent or severely reduced in infants with SCID. The TREC test, which is performed on newborn dried blood samples, is very sensitive and has a false positive rate well below 1%.
To confirm which states are currently screening, please visit: The IDF SCID Newborn Screening Campaign.
History and Current Status of Newborn Screening for Severe Combined Immunodeficiency
SCID is the primary target for TREC NBS. While historically SCID was defined by growth failure and severe and opportunistic infections, along with low to absent T cells, the pre-symptomatic detection of SCID by NBS has required a new disease definition based on laboratory criteria and not relying on infectious complications. The Primary Immune Deficiency Treatment Consortium (PIDTC), a rare disease network funded by the U.S. National Institutes of Health, now defines typical SCID as infants with <300 autologous T cells/μL blood, <10% of control proliferation to the mitogen phytohemagglutinin A (PHA), often with spontaneously engrafted maternal T cells.
WI Public Health Lab Identifies First SCID Baby Using New TREC Assay
The Wisconsin State Laboratory of Hygiene at the University of Wisconsin-Madison has identified the first baby with classical Severe Combine Immune Deficiency (SCID) as part of their newborn screening program. SCID babies, if undiagnosed, eventually develop severe life-threatening infections with a 100% mortality rate, usually within the first year of life…
Secretary of Health and Human Services Announces Addition of SCID to National Newborn Screening Standards
On May 21, 2010, Kathleen Sebelius, Secretary of Health and Human Services (HHS) announced the addition of Severe Combined Immunodeficiency (SCID) — commonly known as bubble boy disease — to the core panel of 29 genetic disorders — as part of her recommendation to adopt the national Recommended Uniform Screening Panel…
U.S. says to screen babies for ‘bubble boy disease’
“Bubble boy disease” is now part of national U.S. newborn screening guidelines, adopted by Secretary of Health and Human Services Kathleen Sebelius last week…
The Secretary adopts the Committee’s recommendation to adopt the SACHDNC’s addition of SCID as a core condition to the Recommended Uniform Screening Panel, and related T-cell lymphocyte deficiencies to the list ofsecondary targets as a comprehensive entity as a national standard and affirms the SACHDNC’s updated Recommended Uniform Screening Panel to screen for 30 core conditions and report 26 secondary conditions.
Letter to the Secretary, U.S. Department of Health and Human Services
Committee therefore recommends to the Secretary: The addition of SCID to the uniform panel, and related T-cell lymphocyte deficiencies to the list of secondary targets as a comprehensive entity, with the understanding that the following activities will also take place in a timely manner…
Immune Deficiency Foundation praises ACHDNC recommendation for SCID screening in newborns
On January 21, 2010, the Advisory Committee on Heritable Disorders in Newborns and Children voted unanimously to add screening for Severe Combined Immune Deficiency or SCID – commonly known as bubble boy disease — to the core panel for universal screening of all newborns in the United States.
Action Shifts to Statehouses in Battle to Save Babies Born with SCID
Vicki and Fred Modell, co-founders of the Jeffrey Modell Foundation, today called upon governors, state public health officials, and legislators, in all states, to implement screening of newborns with Severe Combined Immune Deficiency (SCID).
The Journal of Allergy and Clinical Immunology – Population-based newborn screening for severe combined immunodeficiency: Steps toward implementation by Jennifer M. Puck, MD, on behalf of The SCID Newborn Screening Working Group
Althought much remains to be accomplished, momentum is growing for newborn screening for SCID.
Duke: Newborn Testing for Immune Disorders Could Save Lives