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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Newborn screening for severe combined immunodeficiency: an opportunity for intervention

Journal of Perinatology volume 33, pages 657–658 (2013)Cite this article

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Abstract

Severe combined immunodeficiency (SCID) is a potentially fatal disorder characterized by defective T- and B-lymphocyte function. We describe a 34-week female twin who had developed feeding intolerance, perioral cyanosis, abdominal distension and neutropenia at 1 month of age. Despite several evaluations including an ‘inconclusive’ newborn screening result for SCID, the presence of profound lymphopenia was unappreciated. Eventually a diagnosis of SCID in association with adenosine deaminase deficiency was made. This case serves to emphasize the importance of newborn screening for SCID in the context of careful evaluation of clinical and laboratory findings that may be overlooked and result in a delay in the diagnosis of a potentially life-threatening condition.

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Authors and Affiliations

  1. Division of Hematology CHOC Children’s Hospital and UC Irvine Medical Center, Orange, CA, USA

    D Buchbinder, G Puthenveetil, A Soni, L Hsieh & D Nugent

  2. Division of Clinical Immunology and Allergy Children’s Hospital of Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA

    J A Church

Authors
  1. D Buchbinder
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  2. G Puthenveetil
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  3. A Soni
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  4. L Hsieh
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  5. D Nugent
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  6. J A Church
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Correspondence to D Buchbinder.

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The authors declare no conflict of interest.

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Buchbinder, D., Puthenveetil, G., Soni, A. et al. Newborn screening for severe combined immunodeficiency: an opportunity for intervention. J Perinatol 33, 657–658 (2013). https://doi.org/10.1038/jp.2013.30

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  • DOI: https://doi.org/10.1038/jp.2013.30

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