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Int. J. Neonatal Screen., Volume 1, Issue 3 (December 2015) – 2 articles , Pages 79-100

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Open AccessReview
Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID) and Other Severe T-Cell Lymphopenias
Int. J. Neonatal Screen. 2015, 1(3), 89-100; https://doi.org/10.3390/ijns1030089 - 16 Dec 2015
Cited by 2 | Viewed by 2825
Abstract
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 [...] Read more.
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. Full article
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Open AccessReview
Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges
Int. J. Neonatal Screen. 2015, 1(3), 79-88; https://doi.org/10.3390/ijns1030079 - 23 Nov 2015
Cited by 3 | Viewed by 3038
Abstract
With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently diagnosed. Despite undeniable beneficial effects on morbidity and mortality, neonatal screening [...] Read more.
With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently diagnosed. Despite undeniable beneficial effects on morbidity and mortality, neonatal screening for MCADD effectively exemplifies the unexpected challenges of increased diagnosis by screening programs. MS/MS-based screening revealed an at least 2-fold higher incidence than expected with a considerable share of individuals showing mild biochemical alterations and/or novel mutations with unknown clinical significance. Whether these individuals are at lower risk to experience metabolic decompensations is a matter of ongoing debate. Defining patients, stratifying them according to their clinical risk, and adopting treatment protocols is an as yet unmet challenge in neonatal screening for MCADD. Full article
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