Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID) and Other Severe T-Cell Lymphopenias
by
Stephan Borte 1,2 and Janine Reichenbach 3,4,*
Stephan Borte 1,2 and Janine Reichenbach 3,4,*
1
Immuno Deficiency Center Leipzig (IDCL), St. Georg hospital, 04129 Leipzig, Germany
2
Translational Center for Regenerative Medicine (TRM) Leipzig, University Leipzig, 04103 Leipzig, Germany
3
Division of Immunology, University Children’s Hospital and Children’s Research Center, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland
4
University of Zurich, Rämistrasse 71, 8006 Zurich, Switzerland
*
Author to whom correspondence should be addressed.
Academic Editor: Peter C.J.I. Schielen
Int. J. Neonatal Screen. 2015, 1(3), 89-100; https://doi.org/10.3390/ijns1030089
Received: 28 April 2015 / Revised: 29 October 2015 / Accepted: 4 November 2015 / Published: 16 December 2015
Primary immunodeficiencies (PID) are congenital disorders of immune competence, which are mainly characterized by a pathological susceptibility to infection. More than 240 PID disease entities have been defined so far, accounting for a broad spectrum of clinical symptoms and severity. Severe PID are increasingly becoming appreciated as a relevant health problem, and diagnostic procedures and screening profiles to allow earliest possible diagnosis on a population scale have already been developed in the USA and few European countries. The most severe PID are characterized by significant mortality in the first years of life, as well as serious morbidity with irreversible organ damage. This applies in particular to PID that are defined by the absence or functional anergy of T-lymphocytes (severe combined immunodeficiency; SCID) or B-lymphocytes (e.g., X-linked agammaglobulinemia; XLA). A strategy to improve the outcome of severe PID by prompt diagnosis and immediate adequate treatment is screening newborns for the presence of T and B cells.
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Keywords:
severe combined immunodeficiency (SCID); T-cell lymphopenia; T-cell receptor excision circles (TRECs); kappa-deleting element recombination circles (KRECs); Newborn screening (NBS); hematopoietic stem cell transplantation (HSCT); gene therapy (GT)
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MDPI and ACS Style
Borte, S.; Reichenbach, J. Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID) and Other Severe T-Cell Lymphopenias. Int. J. Neonatal Screen. 2015, 1, 89-100.
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