Matches in SemOpenAlex for { <https://semopenalex.org/work/W866102702> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W866102702 abstract "Chronic Granulomatous Disease (CGD) is a primary immunodeficiency disease (PID) in which the defect lies at the neutrophil intracellular killing step of the phagocytosis process. It is caused by a dysfunctional respiratory burst enzyme Nicotinamide Adenine Dinucleotide Phosphate (NADPH)-oxidase, a multi-protein complex making CGD a heterogeneous disease. X-linked CGD (X-CGD) is due to a mutation in the CYBB gene that codes for gp91-phox, while autosomal CGD is caused by mutations in genes that code for p22-phox, p47-phox, p67-phox, p40-phox and Rac2. The incidence of Klinefelter’s Syndrome and CGD occurring together is extremely rare. This study describes a family where the youngest male child suffered from X-CGD while his older brother was both an X-CGD carrier and a Klinefelter. Flow cytometry was used to study the respiratory burst and gp91-phox protein expression in neutrophils, while geneticinvestigations was done by RT-PCR, PCR and X-chromosome short tandem repeat analysis. The Dihydrorhodamine (DHR) assay revealed that the patient’s neutrophils failed to produce a respiratory burst while both the mother and the older brother showed a bimodal response. gp91-phox protein expression mirrored the DHR findings. The patient’s cDNA showed a C>T change at nucleotide 676 of the CYBB gene and similar change was observed in patient’s genomic DNA. The mother and the older brother were heterozygous, with C and T, in this position. The c.676C>T is a nonsense mutation that leads to premature termination of the gp91-phox protein. The brother was karyotyped as 47, XXY and X chromosome analysis revealed that he had inherited both of his mother’s X chromosomes. This study is the first to report concurrence of X-CGD carrier and Klinefelter’s Syndrome in an individual and therefore argues for familymembers to be included in PID investigations.Keywords: Primary Immunodeficiency Disease, Chronic Granulomatous Disease, Klinefelter’s Syndrome, NADPH-oxidase, gp91-phox protein" @default.
- W866102702 created "2016-06-24" @default.
- W866102702 creator A5043925924 @default.
- W866102702 date "2014-01-01" @default.
- W866102702 modified "2023-09-27" @default.
- W866102702 title "A study of neutrophil dysfunction related disorder in Malaysia: A case study on a X-linked chronic granulomatous disease in a male child / Hemahwathy d/o Chanthira Kumar" @default.
- W866102702 hasPublicationYear "2014" @default.
- W866102702 type Work @default.
- W866102702 sameAs 866102702 @default.
- W866102702 citedByCount "0" @default.
- W866102702 crossrefType "dissertation" @default.
- W866102702 hasAuthorship W866102702A5043925924 @default.
- W866102702 hasConcept C104317684 @default.
- W866102702 hasConcept C153911025 @default.
- W866102702 hasConcept C181199279 @default.
- W866102702 hasConcept C203014093 @default.
- W866102702 hasConcept C2777989768 @default.
- W866102702 hasConcept C2778175462 @default.
- W866102702 hasConcept C2779019163 @default.
- W866102702 hasConcept C2779719074 @default.
- W866102702 hasConcept C35158069 @default.
- W866102702 hasConcept C38485361 @default.
- W866102702 hasConcept C48349386 @default.
- W866102702 hasConcept C54355233 @default.
- W866102702 hasConcept C55493867 @default.
- W866102702 hasConcept C71924100 @default.
- W866102702 hasConcept C86803240 @default.
- W866102702 hasConcept C8891405 @default.
- W866102702 hasConcept C99971728 @default.
- W866102702 hasConceptScore W866102702C104317684 @default.
- W866102702 hasConceptScore W866102702C153911025 @default.
- W866102702 hasConceptScore W866102702C181199279 @default.
- W866102702 hasConceptScore W866102702C203014093 @default.
- W866102702 hasConceptScore W866102702C2777989768 @default.
- W866102702 hasConceptScore W866102702C2778175462 @default.
- W866102702 hasConceptScore W866102702C2779019163 @default.
- W866102702 hasConceptScore W866102702C2779719074 @default.
- W866102702 hasConceptScore W866102702C35158069 @default.
- W866102702 hasConceptScore W866102702C38485361 @default.
- W866102702 hasConceptScore W866102702C48349386 @default.
- W866102702 hasConceptScore W866102702C54355233 @default.
- W866102702 hasConceptScore W866102702C55493867 @default.
- W866102702 hasConceptScore W866102702C71924100 @default.
- W866102702 hasConceptScore W866102702C86803240 @default.
- W866102702 hasConceptScore W866102702C8891405 @default.
- W866102702 hasConceptScore W866102702C99971728 @default.
- W866102702 hasLocation W8661027021 @default.
- W866102702 hasOpenAccess W866102702 @default.
- W866102702 hasPrimaryLocation W8661027021 @default.
- W866102702 hasRelatedWork W1567356897 @default.
- W866102702 hasRelatedWork W1585446250 @default.
- W866102702 hasRelatedWork W2033609464 @default.
- W866102702 hasRelatedWork W2070565176 @default.
- W866102702 hasRelatedWork W2079527931 @default.
- W866102702 hasRelatedWork W2082012441 @default.
- W866102702 hasRelatedWork W2111023629 @default.
- W866102702 hasRelatedWork W2258202813 @default.
- W866102702 hasRelatedWork W2289958881 @default.
- W866102702 hasRelatedWork W2324200858 @default.
- W866102702 hasRelatedWork W2544418972 @default.
- W866102702 hasRelatedWork W2581872979 @default.
- W866102702 hasRelatedWork W2897129064 @default.
- W866102702 hasRelatedWork W2903054869 @default.
- W866102702 hasRelatedWork W2914929031 @default.
- W866102702 hasRelatedWork W3022753502 @default.
- W866102702 hasRelatedWork W3032695751 @default.
- W866102702 hasRelatedWork W3032898099 @default.
- W866102702 hasRelatedWork W3135665782 @default.
- W866102702 hasRelatedWork W3029038594 @default.
- W866102702 isParatext "false" @default.
- W866102702 isRetracted "false" @default.
- W866102702 magId "866102702" @default.
- W866102702 workType "dissertation" @default.