Newborn screening for severe combined immunodeficiency: an opportunity for intervention (original) (raw)
- Perinatal/Neonatal Case Presentation
- Published: 30 July 2013
Perinatal/Neonatal Case Presentation
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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References
- Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007; 120: 776–794.
Article Google Scholar - Slatter MA, Gennery AR . Clinical immunology review series: an approach to the patient with recurrent infections in childhood. Clin Exp Immunol 2008; 152: 389–396.
Article CAS Google Scholar - Buckley RH . Primary immunodeficiency or not? Making the correct diagnosis. J Allergy Clin Immunol 2006; 117: 756–758.
Article Google Scholar - Adeli MM, Buckley RH . Why newborn screening for severe combined immunodeficiency is essential: a case report. Pediatrics 2010; 126: e456–e461.
Article Google Scholar - Brown L, Xu-Bayford J, Allwood Z, Slatter M, Cant A, Davies EG et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood 2011; 117: 3243–3246.
Article CAS Google Scholar - Buckley RH . The multiple causes of human SCID. J Clin Invest 2004; 114: 1409–1411.
Article CAS Google Scholar - Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD et al. How I treat ADA deficiency. Blood 2009; 114: 3524–3532.
Article CAS Google Scholar - Booth C, Hershfield M, Notarangelo L, Buckley R, Hoenig M, Mahlaoui N et al. Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol 2007; 123: 139–147.
Article CAS Google Scholar - Skolic R, Maric I, Kesserwan C, Garabedian E, Hanson IC, Dodds M et al. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood 2011; 118: 2688–2694.
Article Google Scholar - Christensen RD, Baer VL, Gordon PV, Henry E, Whitaker C, Andres RL et al. Reference ranges for lymphocyte counts of neonates: association between abnormal counts and outcomes. Pediatrics 2012; 129: e1165–e1172.
Article Google Scholar - Puck JM . The case for newborn screening for severe combined immunodeficiency and related disorders. Ann NY Acad Sci 2011; 1246: 108–117.
Article CAS Google Scholar
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Authors and Affiliations
- 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 - 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
- D Buchbinder
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You can also search for this author inPubMed Google Scholar - A Soni
You can also search for this author inPubMed Google Scholar - L Hsieh
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Correspondence toD Buchbinder.
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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
- Received: 01 January 2013
- Revised: 31 January 2013
- Accepted: 21 February 2013
- Published: 30 July 2013
- Issue Date: August 2013
- DOI: https://doi.org/10.1038/jp.2013.30