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Severe Combined Immune Deficiency

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Severe combined immune deficiency (SCID) is a fatal, heterogeneous group of immune disorder, characterized by T-cell lymphopenia, a profound lack of cellular (T-cell) and humoral (B-cell) immunity, and, in some cases, decreased NK-cell number and function. All infants with SCID develop infections from both common and opportunistic pathogens because protection from maternal antibodies wanes early in life (Buckley et al. 1997; Friedrich et al. 2007). The incidence of SCID is estimated to be 1/100,000 live births, but this may be an underestimate due to some children dying before diagnosis or having unrecognized less severe disease (Stephan et al. 1993; Chan and Puck 2005; McGhee et al. 2005).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Severe Combined Immune Deficiency. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_213-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_213-2

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  • Online ISBN: 978-1-4614-6430-3

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