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Volume 9/Issue 2, March 2013

Severe combined immunodeficiency in the newborn

Paraskevi Maggina, Andrew R Gennery

Severe combined immunodeficiencies (SCIDs) are a group of rare diseases of T-lymphocyte or thymic failure, which comprise the most severe immunodeficiencies. Generally fatal by one year of age without treatment, they constitute a paediatric emergency and early diagnosis facilitates a better prognosis. This article will review the molecular mechanisms of SCID, clinical signs and symptoms, diagnostic investigations and review treatment modalities and outcomes, and discuss future developments.

Maggina P., Gennery A.R. Severe combined immunodeficiency in the newborn.Infant 2013; 9(2): 52-55. Free download PDF

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