Matches in SemOpenAlex for { <https://semopenalex.org/work/W2142692239> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2142692239 endingPage "6" @default.
- W2142692239 startingPage "1" @default.
- W2142692239 abstract "Chronic granulomatous disease (CGD) is characterized by inherited immune defects resulting from mutations in the NADPH oxidase complex genes. The X-linked type of CGD is caused by defects in the CYBB gene that encodes gp91-phox, a fundamental component of the NADPH oxidase complex. This mutation originates the most common and severe form of CGD, which typically has absence of NADPH oxidase function and aggressive multisystemic infections. We present the case of a 9-year-old child with a rare CYBB mutation that preserves some NADPH oxidase activity, resulting in an atypical mild form of X-linked CGD with isolated lung involvement. Although the clinical picture and partially preserved oxidase function suggested an autosomal recessive form of CGD, genetic testing demonstrated a mutation in the exon 3 of CYBB gene (c.252 G>A, p.Ala84Ala), an uncommon X-linked CGD variant that affects splicing. Atypical presentation and diagnostic difficulties are discussed. This case highlights that the diagnosis of mild forms of X-linked CGD caused by rare CYBB mutations and partially preserved NADPH function should be considered early in the evaluation of atypical and recurrent lung infections." @default.
- W2142692239 created "2016-06-24" @default.
- W2142692239 creator A5000668412 @default.
- W2142692239 creator A5025491347 @default.
- W2142692239 creator A5027397339 @default.
- W2142692239 creator A5043733215 @default.
- W2142692239 creator A5078007274 @default.
- W2142692239 date "2012-01-01" @default.
- W2142692239 modified "2023-09-25" @default.
- W2142692239 title "Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease" @default.
- W2142692239 cites W1494643260 @default.
- W2142692239 cites W1986439862 @default.
- W2142692239 cites W1996535022 @default.
- W2142692239 cites W2008981570 @default.
- W2142692239 cites W2013566990 @default.
- W2142692239 cites W2026456204 @default.
- W2142692239 cites W2031707019 @default.
- W2142692239 cites W2038753879 @default.
- W2142692239 cites W2039409195 @default.
- W2142692239 cites W2060273459 @default.
- W2142692239 cites W2087293103 @default.
- W2142692239 cites W2087444519 @default.
- W2142692239 cites W2090559690 @default.
- W2142692239 cites W2095505514 @default.
- W2142692239 cites W2111804735 @default.
- W2142692239 cites W2129413349 @default.
- W2142692239 cites W2144145255 @default.
- W2142692239 cites W2150134052 @default.
- W2142692239 cites W4310912077 @default.
- W2142692239 cites W68926766 @default.
- W2142692239 doi "https://doi.org/10.1155/2012/974561" @default.
- W2142692239 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3501804" @default.
- W2142692239 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23193493" @default.
- W2142692239 hasPublicationYear "2012" @default.
- W2142692239 type Work @default.
- W2142692239 sameAs 2142692239 @default.
- W2142692239 citedByCount "4" @default.
- W2142692239 countsByYear W21426922392019 @default.
- W2142692239 countsByYear W21426922392020 @default.
- W2142692239 countsByYear W21426922392021 @default.
- W2142692239 crossrefType "journal-article" @default.
- W2142692239 hasAuthorship W2142692239A5000668412 @default.
- W2142692239 hasAuthorship W2142692239A5025491347 @default.
- W2142692239 hasAuthorship W2142692239A5027397339 @default.
- W2142692239 hasAuthorship W2142692239A5043733215 @default.
- W2142692239 hasAuthorship W2142692239A5078007274 @default.
- W2142692239 hasBestOaLocation W21426922391 @default.
- W2142692239 hasConcept C104317684 @default.
- W2142692239 hasConcept C153911025 @default.
- W2142692239 hasConcept C203014093 @default.
- W2142692239 hasConcept C2778175462 @default.
- W2142692239 hasConcept C2779719074 @default.
- W2142692239 hasConcept C36823959 @default.
- W2142692239 hasConcept C48349386 @default.
- W2142692239 hasConcept C501734568 @default.
- W2142692239 hasConcept C54355233 @default.
- W2142692239 hasConcept C71924100 @default.
- W2142692239 hasConcept C86803240 @default.
- W2142692239 hasConceptScore W2142692239C104317684 @default.
- W2142692239 hasConceptScore W2142692239C153911025 @default.
- W2142692239 hasConceptScore W2142692239C203014093 @default.
- W2142692239 hasConceptScore W2142692239C2778175462 @default.
- W2142692239 hasConceptScore W2142692239C2779719074 @default.
- W2142692239 hasConceptScore W2142692239C36823959 @default.
- W2142692239 hasConceptScore W2142692239C48349386 @default.
- W2142692239 hasConceptScore W2142692239C501734568 @default.
- W2142692239 hasConceptScore W2142692239C54355233 @default.
- W2142692239 hasConceptScore W2142692239C71924100 @default.
- W2142692239 hasConceptScore W2142692239C86803240 @default.
- W2142692239 hasLocation W21426922391 @default.
- W2142692239 hasLocation W21426922392 @default.
- W2142692239 hasLocation W21426922393 @default.
- W2142692239 hasLocation W21426922394 @default.
- W2142692239 hasLocation W21426922395 @default.
- W2142692239 hasOpenAccess W2142692239 @default.
- W2142692239 hasPrimaryLocation W21426922391 @default.
- W2142692239 hasRelatedWork W1494643260 @default.
- W2142692239 hasRelatedWork W1531616236 @default.
- W2142692239 hasRelatedWork W2025851750 @default.
- W2142692239 hasRelatedWork W2059736436 @default.
- W2142692239 hasRelatedWork W2060169551 @default.
- W2142692239 hasRelatedWork W2068588654 @default.
- W2142692239 hasRelatedWork W2068932327 @default.
- W2142692239 hasRelatedWork W2168467210 @default.
- W2142692239 hasRelatedWork W2384774992 @default.
- W2142692239 hasRelatedWork W2417766600 @default.
- W2142692239 hasVolume "2012" @default.
- W2142692239 isParatext "false" @default.
- W2142692239 isRetracted "false" @default.
- W2142692239 magId "2142692239" @default.
- W2142692239 workType "article" @default.