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Introduction to Severe Combined Immunodeficiencies (SCID) and Newborn Screening for SCID

Published: March 2013

Hot Topic Q&A is an opportunity for viewers to submit questions to the Hot Topic presenter. The opportunity to submit questions for this topic is now closed.

The following question was submitted by a viewer and answered by the presenter, Roshini Abraham, PhD, Associate Professor of Laboratory Medicine/Pathology and Medicine, Consultant in the Division of Clinical Biochemistry and Immunology, Director of the Cellular and Molecular Immunology Laboratory within the Department of Laboratory Medicine and Pathology, Director of the Jeffrey Modell Foundation for Primary Immunodeficiencies Diagnostic and Research Center all at Mayo Clinic in Rochester, Minnesota.

Questions are presented as submitted (unedited).

  1. What is the economic impact of universal screening?

    There are no published data as of yet on the economic impact of newborn screening for SCID/T-cell lymphopenia. However, there was a family study (see references) that was performed a couple of years ago that showed substantive differences in mortality in infants who were screened vs those who were not. Also, since mortality is almost universal in all infants with classic forms of SCID by 2 years of age and there are significant healthcare costs to repeated hospitalizations and treatment for infection and other comorbidities, let alone lost lives and productivity, both from patient (future) and families who have to take care of them, it is quite reasonable to predict that the economic impact of NBS SCID would be significant. At the moment, no one has put the dollars and cents numbers together but as more and more states are initiating NBS SCID that will be one of the outcome parameters that will be assessed.


    1. Chana A, Scalchunes C, Boyle M, et al: Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective survey. Clinical Immunology 2011;138:3-8
    2. Nicholas S, Krance RA: Letter to the Editor, Early versus delayed diagnosis of SCID: Triumph versus tragedy. Clinical Immunology 2011;139:360-362