FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1986132021> ?p ?o ?g. }

• W1986132021 endingPage "398" @default.
• W1986132021 startingPage "391" @default.
• W1986132021 abstract "BackgroundSevere combined immunodeficiency (SCID) is a treatable, inherited lack of cellular and humoral immunity caused by diverse mutations in several different genes and leading to death in infancy unless immune reconstitution is provided. Currently no population screening exists for SCID, but early diagnosis would improve outcome.ObjectiveBecause all patients with SCID make few or no T cells, we asked whether the absence of T-cell receptor excision circles (TRECs), DNA episomes in newly formed T cells, could identify SCID regardless of genotype.MethodsDNA isolated from dried blood spots was assayed by real-time PCR to quantitate TRECs. Control PCR was performed on a segment of the β-actin gene. After pilot studies with adult and cord blood control subjects, blood from SCID patients was spotted onto filters and tested, followed by screening of actual blood spots from the Maryland Newborn Screening Program. Finally, newborn blood spots were recovered and tested from 2 infants after their diagnosis of SCID.ResultsIn contrast to filters from the newborn screening program, which had a mean of 1020 TRECs in two 3-mm punches, samples from 23 infants with SCID had <30 TRECs. The newborn screening filter was retrieved from a state laboratory for one of these infants plus another infant who had died of SCID previously; although both samples had detectable β-actin DNA, neither had TRECs.ConclusionTRECs are a stable analyte that can identify T-cell lymphopenia in newborn dried blood spots so that infants with SCID can receive early, life-saving treatment. Severe combined immunodeficiency (SCID) is a treatable, inherited lack of cellular and humoral immunity caused by diverse mutations in several different genes and leading to death in infancy unless immune reconstitution is provided. Currently no population screening exists for SCID, but early diagnosis would improve outcome. Because all patients with SCID make few or no T cells, we asked whether the absence of T-cell receptor excision circles (TRECs), DNA episomes in newly formed T cells, could identify SCID regardless of genotype. DNA isolated from dried blood spots was assayed by real-time PCR to quantitate TRECs. Control PCR was performed on a segment of the β-actin gene. After pilot studies with adult and cord blood control subjects, blood from SCID patients was spotted onto filters and tested, followed by screening of actual blood spots from the Maryland Newborn Screening Program. Finally, newborn blood spots were recovered and tested from 2 infants after their diagnosis of SCID. In contrast to filters from the newborn screening program, which had a mean of 1020 TRECs in two 3-mm punches, samples from 23 infants with SCID had <30 TRECs. The newborn screening filter was retrieved from a state laboratory for one of these infants plus another infant who had died of SCID previously; although both samples had detectable β-actin DNA, neither had TRECs. TRECs are a stable analyte that can identify T-cell lymphopenia in newborn dried blood spots so that infants with SCID can receive early, life-saving treatment." @default.
• W1986132021 created "2016-06-24" @default.
• W1986132021 creator A5010378552 @default.
• W1986132021 creator A5014774184 @default.
• W1986132021 date "2005-02-01" @default.
• W1986132021 modified "2023-10-11" @default.
• W1986132021 title "Development of population-based newborn screening for severe combined immunodeficiency" @default.
• W1986132021 cites W1482065222 @default.
• W1986132021 cites W1494122660 @default.
• W1986132021 cites W1502772682 @default.
• W1986132021 cites W1509163238 @default.
• W1986132021 cites W1580217007 @default.
• W1986132021 cites W1580572689 @default.
• W1986132021 cites W1581650643 @default.
• W1986132021 cites W1980081248 @default.
• W1986132021 cites W1980808870 @default.
• W1986132021 cites W1987011874 @default.
• W1986132021 cites W1996399352 @default.
• W1986132021 cites W1998522750 @default.
• W1986132021 cites W2000468629 @default.
• W1986132021 cites W2001272015 @default.
• W1986132021 cites W2014963320 @default.
• W1986132021 cites W2016064814 @default.
• W1986132021 cites W2018092519 @default.
• W1986132021 cites W2022243496 @default.
• W1986132021 cites W2040123224 @default.
• W1986132021 cites W2048279530 @default.
• W1986132021 cites W2055483105 @default.
• W1986132021 cites W2056297572 @default.
• W1986132021 cites W2074342072 @default.
• W1986132021 cites W2076355973 @default.
• W1986132021 cites W2076894371 @default.
• W1986132021 cites W2083708375 @default.
• W1986132021 cites W2085516892 @default.
• W1986132021 cites W2086594433 @default.
• W1986132021 cites W2107278930 @default.
• W1986132021 cites W2111653667 @default.
• W1986132021 cites W2113971669 @default.
• W1986132021 cites W2114338479 @default.
• W1986132021 cites W2119363899 @default.
• W1986132021 cites W2125500266 @default.
• W1986132021 cites W2131849707 @default.
• W1986132021 cites W2144729402 @default.
• W1986132021 cites W2149177139 @default.
• W1986132021 cites W2149259516 @default.
• W1986132021 cites W2152461163 @default.
• W1986132021 cites W2330288813 @default.
• W1986132021 cites W2572233504 @default.
• W1986132021 cites W4229664770 @default.
• W1986132021 doi "https://doi.org/10.1016/j.jaci.2004.10.012" @default.
• W1986132021 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15696101" @default.
• W1986132021 hasPublicationYear "2005" @default.
• W1986132021 type Work @default.
• W1986132021 sameAs 1986132021 @default.
• W1986132021 citedByCount "333" @default.
• W1986132021 countsByYear W19861320212012 @default.
• W1986132021 countsByYear W19861320212013 @default.
• W1986132021 countsByYear W19861320212014 @default.
• W1986132021 countsByYear W19861320212015 @default.
• W1986132021 countsByYear W19861320212016 @default.
• W1986132021 countsByYear W19861320212017 @default.
• W1986132021 countsByYear W19861320212018 @default.
• W1986132021 countsByYear W19861320212019 @default.
• W1986132021 countsByYear W19861320212020 @default.
• W1986132021 countsByYear W19861320212021 @default.
• W1986132021 countsByYear W19861320212022 @default.
• W1986132021 countsByYear W19861320212023 @default.
• W1986132021 crossrefType "journal-article" @default.
• W1986132021 hasAuthorship W1986132021A5010378552 @default.
• W1986132021 hasAuthorship W1986132021A5014774184 @default.
• W1986132021 hasBestOaLocation W19861320212 @default.
• W1986132021 hasConcept C104317684 @default.
• W1986132021 hasConcept C185592680 @default.
• W1986132021 hasConcept C187212893 @default.
• W1986132021 hasConcept C203014093 @default.
• W1986132021 hasConcept C2776169613 @default.
• W1986132021 hasConcept C2776597655 @default.
• W1986132021 hasConcept C2777607303 @default.
• W1986132021 hasConcept C2779341262 @default.
• W1986132021 hasConcept C2779468541 @default.
• W1986132021 hasConcept C2780914630 @default.
• W1986132021 hasConcept C2908647359 @default.
• W1986132021 hasConcept C3017516299 @default.
• W1986132021 hasConcept C43617362 @default.
• W1986132021 hasConcept C54355233 @default.
• W1986132021 hasConcept C71924100 @default.
• W1986132021 hasConcept C86803240 @default.
• W1986132021 hasConcept C8891405 @default.
• W1986132021 hasConcept C99454951 @default.
• W1986132021 hasConceptScore W1986132021C104317684 @default.
• W1986132021 hasConceptScore W1986132021C185592680 @default.
• W1986132021 hasConceptScore W1986132021C187212893 @default.
• W1986132021 hasConceptScore W1986132021C203014093 @default.
• W1986132021 hasConceptScore W1986132021C2776169613 @default.
• W1986132021 hasConceptScore W1986132021C2776597655 @default.
• W1986132021 hasConceptScore W1986132021C2777607303 @default.
• W1986132021 hasConceptScore W1986132021C2779341262 @default.
• W1986132021 hasConceptScore W1986132021C2779468541 @default.

• next