FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2945533458> ?p ?o ?g. }

• W2945533458 abstract "We report outcomes after hematopoietic stem cell transplant for 3 patients with X-MAID, including 1 patient from the originally described cohort and two brothers with positive TREC newborn screening for SCID who were found to have a T-B-NK+ SCID phenotype attributable to X-linked moesin associated immunodeficiency (X-MAID). A p.Arg171Trp variant in moesin was identified via exome sequencing in the older of these siblings in the setting of low lymphocyte counts and poor proliferative responses consistent with SCID. He received reduced intensity conditioning due to CMV, and was transplanted with a T-depleted haploidentical (maternal) donor. His post-transplant course was complicated by hemolytic anemia, neutropenia and sepsis. He had poor engraftment, requiring a 2nd transplant. His younger brother presented with the same clinical phenotype and was treated with umbilical cord blood transplant following myeloablative conditioning, has engrafted and is doing well. The third case also presented with severe lymphopenia in infancy, received a matched related bone marrow transplant following myeloablative conditioning, has engrafted and is doing well. These cases represent a novel manifestation of non-radiosensitive X-linked form of T-B-NK+ SCID that is able to be detected by TREC based newborn screening and effectively treated with HCT." @default.
• W2945533458 created "2019-05-29" @default.
• W2945533458 creator A5000313502 @default.
• W2945533458 creator A5002935486 @default.
• W2945533458 creator A5003228879 @default.
• W2945533458 creator A5006102363 @default.
• W2945533458 creator A5020579810 @default.
• W2945533458 creator A5046025488 @default.
• W2945533458 creator A5052232107 @default.
• W2945533458 creator A5064490596 @default.
• W2945533458 date "2019-05-14" @default.
• W2945533458 modified "2023-10-09" @default.
• W2945533458 title "Hematopoietic Stem Cell Transplant for the Treatment of X-MAID" @default.
• W2945533458 cites W2034609134 @default.
• W2945533458 cites W2097583590 @default.
• W2945533458 cites W2122153475 @default.
• W2945533458 cites W2152273129 @default.
• W2945533458 cites W2154794733 @default.
• W2945533458 cites W2307181553 @default.
• W2945533458 cites W2415163896 @default.
• W2945533458 cites W2528460956 @default.
• W2945533458 cites W2604411417 @default.
• W2945533458 cites W2764187574 @default.
• W2945533458 cites W2792808900 @default.
• W2945533458 doi "https://doi.org/10.3389/fped.2019.00170" @default.
• W2945533458 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6527778" @default.
• W2945533458 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31139601" @default.
• W2945533458 hasPublicationYear "2019" @default.
• W2945533458 type Work @default.
• W2945533458 sameAs 2945533458 @default.
• W2945533458 citedByCount "8" @default.
• W2945533458 countsByYear W29455334582019 @default.
• W2945533458 countsByYear W29455334582020 @default.
• W2945533458 countsByYear W29455334582021 @default.
• W2945533458 countsByYear W29455334582022 @default.
• W2945533458 crossrefType "journal-article" @default.
• W2945533458 hasAuthorship W2945533458A5000313502 @default.
• W2945533458 hasAuthorship W2945533458A5002935486 @default.
• W2945533458 hasAuthorship W2945533458A5003228879 @default.
• W2945533458 hasAuthorship W2945533458A5006102363 @default.
• W2945533458 hasAuthorship W2945533458A5020579810 @default.
• W2945533458 hasAuthorship W2945533458A5046025488 @default.
• W2945533458 hasAuthorship W2945533458A5052232107 @default.
• W2945533458 hasAuthorship W2945533458A5064490596 @default.
• W2945533458 hasBestOaLocation W29455334581 @default.
• W2945533458 hasConcept C104317684 @default.
• W2945533458 hasConcept C109159458 @default.
• W2945533458 hasConcept C126322002 @default.
• W2945533458 hasConcept C185592680 @default.
• W2945533458 hasConcept C203014093 @default.
• W2945533458 hasConcept C2776694085 @default.
• W2945533458 hasConcept C2776955114 @default.
• W2945533458 hasConcept C2777063308 @default.
• W2945533458 hasConcept C2777408962 @default.
• W2945533458 hasConcept C2778384902 @default.
• W2945533458 hasConcept C2779468541 @default.
• W2945533458 hasConcept C2780914630 @default.
• W2945533458 hasConcept C28328180 @default.
• W2945533458 hasConcept C2911091166 @default.
• W2945533458 hasConcept C54355233 @default.
• W2945533458 hasConcept C55493867 @default.
• W2945533458 hasConcept C71924100 @default.
• W2945533458 hasConcept C86803240 @default.
• W2945533458 hasConceptScore W2945533458C104317684 @default.
• W2945533458 hasConceptScore W2945533458C109159458 @default.
• W2945533458 hasConceptScore W2945533458C126322002 @default.
• W2945533458 hasConceptScore W2945533458C185592680 @default.
• W2945533458 hasConceptScore W2945533458C203014093 @default.
• W2945533458 hasConceptScore W2945533458C2776694085 @default.
• W2945533458 hasConceptScore W2945533458C2776955114 @default.
• W2945533458 hasConceptScore W2945533458C2777063308 @default.
• W2945533458 hasConceptScore W2945533458C2777408962 @default.
• W2945533458 hasConceptScore W2945533458C2778384902 @default.
• W2945533458 hasConceptScore W2945533458C2779468541 @default.
• W2945533458 hasConceptScore W2945533458C2780914630 @default.
• W2945533458 hasConceptScore W2945533458C28328180 @default.
• W2945533458 hasConceptScore W2945533458C2911091166 @default.
• W2945533458 hasConceptScore W2945533458C54355233 @default.
• W2945533458 hasConceptScore W2945533458C55493867 @default.
• W2945533458 hasConceptScore W2945533458C71924100 @default.
• W2945533458 hasConceptScore W2945533458C86803240 @default.
• W2945533458 hasLocation W29455334581 @default.
• W2945533458 hasLocation W29455334582 @default.
• W2945533458 hasLocation W29455334583 @default.
• W2945533458 hasLocation W29455334584 @default.
• W2945533458 hasLocation W29455334585 @default.
• W2945533458 hasOpenAccess W2945533458 @default.
• W2945533458 hasPrimaryLocation W29455334581 @default.
• W2945533458 hasRelatedWork W1565849830 @default.
• W2945533458 hasRelatedWork W1981187972 @default.
• W2945533458 hasRelatedWork W2062256187 @default.
• W2945533458 hasRelatedWork W2366793411 @default.
• W2945533458 hasRelatedWork W2408811484 @default.
• W2945533458 hasRelatedWork W2409478399 @default.
• W2945533458 hasRelatedWork W2424415759 @default.
• W2945533458 hasRelatedWork W2428994244 @default.
• W2945533458 hasRelatedWork W2468610105 @default.
• W2945533458 hasRelatedWork W2164671137 @default.
• W2945533458 hasVolume "7" @default.
• W2945533458 isParatext "false" @default.

• next