FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3196498744> ?p ?o ?g. }

• W3196498744 abstract "The implementation of severe combined immunodeficiency (SCID) newborn screening has played a pivotal role in identifying these patients early in life as well as detecting various milder forms of T cell lymphopenia (TCL). In this study we reviewed the diagnostic and clinical outcomes, and interesting immunology findings of term infants referred to a tertiary care center with abnormal newborn SCID screens over a 6-year period. Key findings included a 33% incidence of non-SCID TCL including infants with novel variants in FOXN1, TBX1, MYSM1, POLD1, and CD3E; 57% positivity rate of newborn SCID screening among infants with DiGeorge syndrome; and earlier diagnosis and improved transplant outcomes for SCID in infants diagnosed after compared to before implementation of routine screening. Our study is unique in terms of the extensive laboratory workup of abnormal SCID screens including lymphocyte subsets, measurement of thymic output (TREC and CD4TE), and lymphocyte proliferation to mitogens in nearly all infants. These data allowed us to observe a stronger positive correlation of the absolute CD3 count with CD4RTE than with TREC copies, and a weak positive correlation between CD4RTE and TREC copies. Finally, we did not observe a correlation between risk of TCL and history of prenatal or perinatal complications or low birth weight. Our study demonstrated SCID newborn screening improves disease outcomes, particularly in typical SCID, and allows early detection and discovery of novel variants of certain TCL-associated genetic conditions." @default.
• W3196498744 created "2021-09-13" @default.
• W3196498744 creator A5001329171 @default.
• W3196498744 creator A5006486992 @default.
• W3196498744 creator A5034563852 @default.
• W3196498744 creator A5036808692 @default.
• W3196498744 creator A5059127312 @default.
• W3196498744 creator A5063961611 @default.
• W3196498744 creator A5070661990 @default.
• W3196498744 creator A5072613472 @default.
• W3196498744 date "2021-09-03" @default.
• W3196498744 modified "2023-10-15" @default.
• W3196498744 title "Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S." @default.
• W3196498744 cites W2016524406 @default.
• W3196498744 cites W2027785491 @default.
• W3196498744 cites W2037534317 @default.
• W3196498744 cites W2048900407 @default.
• W3196498744 cites W2122153475 @default.
• W3196498744 cites W2145993794 @default.
• W3196498744 cites W2154794733 @default.
• W3196498744 cites W2577080295 @default.
• W3196498744 cites W2725829692 @default.
• W3196498744 cites W2756214299 @default.
• W3196498744 cites W2767967751 @default.
• W3196498744 cites W2768042768 @default.
• W3196498744 cites W2904195687 @default.
• W3196498744 cites W2911443178 @default.
• W3196498744 cites W2969570935 @default.
• W3196498744 cites W2992369281 @default.
• W3196498744 cites W2994917050 @default.
• W3196498744 cites W3036300785 @default.
• W3196498744 cites W3118560397 @default.
• W3196498744 cites W3118978865 @default.
• W3196498744 cites W3129368685 @default.
• W3196498744 cites W3135162771 @default.
• W3196498744 cites W968260649 @default.
• W3196498744 doi "https://doi.org/10.3389/fimmu.2021.734096" @default.
• W3196498744 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8446381" @default.
• W3196498744 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34539671" @default.
• W3196498744 hasPublicationYear "2021" @default.
• W3196498744 type Work @default.
• W3196498744 sameAs 3196498744 @default.
• W3196498744 citedByCount "7" @default.
• W3196498744 countsByYear W31964987442022 @default.
• W3196498744 countsByYear W31964987442023 @default.
• W3196498744 crossrefType "journal-article" @default.
• W3196498744 hasAuthorship W3196498744A5001329171 @default.
• W3196498744 hasAuthorship W3196498744A5006486992 @default.
• W3196498744 hasAuthorship W3196498744A5034563852 @default.
• W3196498744 hasAuthorship W3196498744A5036808692 @default.
• W3196498744 hasAuthorship W3196498744A5059127312 @default.
• W3196498744 hasAuthorship W3196498744A5063961611 @default.
• W3196498744 hasAuthorship W3196498744A5070661990 @default.
• W3196498744 hasAuthorship W3196498744A5072613472 @default.
• W3196498744 hasBestOaLocation W31964987441 @default.
• W3196498744 hasConcept C104317684 @default.
• W3196498744 hasConcept C120665830 @default.
• W3196498744 hasConcept C121332964 @default.
• W3196498744 hasConcept C187212893 @default.
• W3196498744 hasConcept C203014093 @default.
• W3196498744 hasConcept C2776169613 @default.
• W3196498744 hasConcept C2777607303 @default.
• W3196498744 hasConcept C2779468541 @default.
• W3196498744 hasConcept C55493867 @default.
• W3196498744 hasConcept C61511704 @default.
• W3196498744 hasConcept C71924100 @default.
• W3196498744 hasConcept C86803240 @default.
• W3196498744 hasConcept C8891405 @default.
• W3196498744 hasConceptScore W3196498744C104317684 @default.
• W3196498744 hasConceptScore W3196498744C120665830 @default.
• W3196498744 hasConceptScore W3196498744C121332964 @default.
• W3196498744 hasConceptScore W3196498744C187212893 @default.
• W3196498744 hasConceptScore W3196498744C203014093 @default.
• W3196498744 hasConceptScore W3196498744C2776169613 @default.
• W3196498744 hasConceptScore W3196498744C2777607303 @default.
• W3196498744 hasConceptScore W3196498744C2779468541 @default.
• W3196498744 hasConceptScore W3196498744C55493867 @default.
• W3196498744 hasConceptScore W3196498744C61511704 @default.
• W3196498744 hasConceptScore W3196498744C71924100 @default.
• W3196498744 hasConceptScore W3196498744C86803240 @default.
• W3196498744 hasConceptScore W3196498744C8891405 @default.
• W3196498744 hasLocation W31964987441 @default.
• W3196498744 hasLocation W31964987442 @default.
• W3196498744 hasLocation W31964987443 @default.
• W3196498744 hasLocation W31964987444 @default.
• W3196498744 hasLocation W31964987445 @default.
• W3196498744 hasLocation W31964987446 @default.
• W3196498744 hasOpenAccess W3196498744 @default.
• W3196498744 hasPrimaryLocation W31964987441 @default.
• W3196498744 hasRelatedWork W1952855721 @default.
• W3196498744 hasRelatedWork W1968276260 @default.
• W3196498744 hasRelatedWork W2047675180 @default.
• W3196498744 hasRelatedWork W2291465919 @default.
• W3196498744 hasRelatedWork W2968091166 @default.
• W3196498744 hasRelatedWork W2970334679 @default.
• W3196498744 hasRelatedWork W3143845560 @default.
• W3196498744 hasRelatedWork W3210732731 @default.
• W3196498744 hasRelatedWork W4288384310 @default.
• W3196498744 hasRelatedWork W4310378707 @default.
• W3196498744 hasVolume "12" @default.

• next