FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4328104891> ?p ?o ?g. }

• W4328104891 endingPage "959" @default.
• W4328104891 startingPage "959" @default.
• W4328104891 abstract "We present a unique and unusual case of a male patient diagnosed with two coexisting and typically unassociated X-linked conditions: he was initially diagnosed with X-linked agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic granulomatous disease (XCGD) and an as of yet unpublished hypomorphic gp91phox variant in the CYBB gene. The latter was tested after the finding of granulomatous gingivitis. Hematopoietic stem cell transplant (HSCT) was performed due to severe colitis and nodular regenerative hyperplasia (NRH) of the liver. Following transplant, complete donor engraftment was observed with the restoration of a normal oxidative burst and full restoration of normal levels of circulating, mature CD19+ B cells. This case is singular in that it does not involve a contiguous gene syndrome in which deleted genes are in close proximity to either BTK and CYBB, which has been previously reported. To our knowledge, this is the first reported case of XLA and XCGD co-existing in a single patient and of having both inborn errors of immunity successfully treated by HSCT." @default.
• W4328104891 created "2023-03-22" @default.
• W4328104891 creator A5016644579 @default.
• W4328104891 creator A5039089267 @default.
• W4328104891 creator A5044018957 @default.
• W4328104891 creator A5069909186 @default.
• W4328104891 creator A5073597251 @default.
• W4328104891 creator A5081954803 @default.
• W4328104891 creator A5083800712 @default.
• W4328104891 date "2023-03-21" @default.
• W4328104891 modified "2023-10-16" @default.
• W4328104891 title "Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient" @default.
• W4328104891 cites W1997347627 @default.
• W4328104891 cites W2028738554 @default.
• W4328104891 cites W2061652403 @default.
• W4328104891 cites W2090377701 @default.
• W4328104891 cites W2130312879 @default.
• W4328104891 cites W2146658521 @default.
• W4328104891 cites W2490698663 @default.
• W4328104891 cites W2614661137 @default.
• W4328104891 cites W2799788107 @default.
• W4328104891 cites W2928734528 @default.
• W4328104891 cites W3033126525 @default.
• W4328104891 cites W3036708547 @default.
• W4328104891 cites W3165063137 @default.
• W4328104891 cites W3175173352 @default.
• W4328104891 cites W3212194761 @default.
• W4328104891 cites W4211138997 @default.
• W4328104891 cites W4221065747 @default.
• W4328104891 cites W4282554252 @default.
• W4328104891 cites W4284964513 @default.
• W4328104891 cites W4293252794 @default.
• W4328104891 cites W4294237961 @default.
• W4328104891 cites W4307269153 @default.
• W4328104891 cites W4308147265 @default.
• W4328104891 doi "https://doi.org/10.3390/biomedicines11030959" @default.
• W4328104891 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36979938" @default.
• W4328104891 hasPublicationYear "2023" @default.
• W4328104891 type Work @default.
• W4328104891 citedByCount "3" @default.
• W4328104891 countsByYear W43281048912023 @default.
• W4328104891 crossrefType "journal-article" @default.
• W4328104891 hasAuthorship W4328104891A5016644579 @default.
• W4328104891 hasAuthorship W4328104891A5039089267 @default.
• W4328104891 hasAuthorship W4328104891A5044018957 @default.
• W4328104891 hasAuthorship W4328104891A5069909186 @default.
• W4328104891 hasAuthorship W4328104891A5073597251 @default.
• W4328104891 hasAuthorship W4328104891A5081954803 @default.
• W4328104891 hasAuthorship W4328104891A5083800712 @default.
• W4328104891 hasBestOaLocation W43281048911 @default.
• W4328104891 hasConcept C104317684 @default.
• W4328104891 hasConcept C126322002 @default.
• W4328104891 hasConcept C142724271 @default.
• W4328104891 hasConcept C170493617 @default.
• W4328104891 hasConcept C203014093 @default.
• W4328104891 hasConcept C2777408962 @default.
• W4328104891 hasConcept C2778153459 @default.
• W4328104891 hasConcept C2778175462 @default.
• W4328104891 hasConcept C2779134260 @default.
• W4328104891 hasConcept C2779528874 @default.
• W4328104891 hasConcept C2780479503 @default.
• W4328104891 hasConcept C42362537 @default.
• W4328104891 hasConcept C54355233 @default.
• W4328104891 hasConcept C71924100 @default.
• W4328104891 hasConcept C86803240 @default.
• W4328104891 hasConcept C90059517 @default.
• W4328104891 hasConceptScore W4328104891C104317684 @default.
• W4328104891 hasConceptScore W4328104891C126322002 @default.
• W4328104891 hasConceptScore W4328104891C142724271 @default.
• W4328104891 hasConceptScore W4328104891C170493617 @default.
• W4328104891 hasConceptScore W4328104891C203014093 @default.
• W4328104891 hasConceptScore W4328104891C2777408962 @default.
• W4328104891 hasConceptScore W4328104891C2778153459 @default.
• W4328104891 hasConceptScore W4328104891C2778175462 @default.
• W4328104891 hasConceptScore W4328104891C2779134260 @default.
• W4328104891 hasConceptScore W4328104891C2779528874 @default.
• W4328104891 hasConceptScore W4328104891C2780479503 @default.
• W4328104891 hasConceptScore W4328104891C42362537 @default.
• W4328104891 hasConceptScore W4328104891C54355233 @default.
• W4328104891 hasConceptScore W4328104891C71924100 @default.
• W4328104891 hasConceptScore W4328104891C86803240 @default.
• W4328104891 hasConceptScore W4328104891C90059517 @default.
• W4328104891 hasIssue "3" @default.
• W4328104891 hasLocation W43281048911 @default.
• W4328104891 hasLocation W43281048912 @default.
• W4328104891 hasLocation W43281048913 @default.
• W4328104891 hasOpenAccess W4328104891 @default.
• W4328104891 hasPrimaryLocation W43281048911 @default.
• W4328104891 hasRelatedWork W1631339211 @default.
• W4328104891 hasRelatedWork W1968407787 @default.
• W4328104891 hasRelatedWork W2004331734 @default.
• W4328104891 hasRelatedWork W2056037925 @default.
• W4328104891 hasRelatedWork W2283157837 @default.
• W4328104891 hasRelatedWork W2464962541 @default.
• W4328104891 hasRelatedWork W2475104063 @default.
• W4328104891 hasRelatedWork W2597303406 @default.
• W4328104891 hasRelatedWork W4323654466 @default.
• W4328104891 hasRelatedWork W4328104891 @default.

• next