FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2581083221> ?p ?o ?g. }

• W2581083221 abstract "Chronic granulomatous disease (CGD) is a rare inherited deficiency of the innate immune system caused by mutations of one of five genes encoding the subunits of the phagocyte NADPH oxidase (phox) complex. The phox deficiencies result in defective production of reactive oxygen species leading to impaired microbial killing and excessive inflammation. CGD is thus characterized by severe recurrent bacterial and fungal infections as well as hyperinflammatory complications (most prominent in the pulmonary, gastrointestinal, and urinary tracts). Diagnostic clinical tests for CGD rely on measurement of defective superoxide O 2 − production. After verification, the disease-causing mutation should be determined in every CGD patient. Carrier testing for at-risk relatives, prenatal testing for pregnancies at risk, and prognostication then become possible. Conventional management of CGD is based on antimicrobial prophylaxis, prolonged treatment of bacterial and fungal infections after appropriate imaging and pathogen identification, and cautious use of corticosteroids for inflammatory complications. Allogeneic hemopoietic stem cell transplantation (allo-HSCT) with an HLA-matched donor is the only known cure for CGD and is indicated early in life in patients with no residual O 2 − production (preferably after reduced-intensity conditioning). Experimental studies of stem cell gene therapy for X-linked CGD are ongoing as salvage treatment when allo-HSCT is strongly indicated, but a suitable donor cannot be found." @default.
• W2581083221 created "2017-02-03" @default.
• W2581083221 creator A5081973009 @default.
• W2581083221 date "2016-01-01" @default.
• W2581083221 modified "2023-09-23" @default.
• W2581083221 title "Chronic Granulomatous Disease" @default.
• W2581083221 cites W1494999169 @default.
• W2581083221 cites W1503053236 @default.
• W2581083221 cites W1537303659 @default.
• W2581083221 cites W1558195332 @default.
• W2581083221 cites W1567213819 @default.
• W2581083221 cites W1936895813 @default.
• W2581083221 cites W1959339997 @default.
• W2581083221 cites W1966530560 @default.
• W2581083221 cites W1967854518 @default.
• W2581083221 cites W1968564077 @default.
• W2581083221 cites W1973241546 @default.
• W2581083221 cites W1978174410 @default.
• W2581083221 cites W1978903586 @default.
• W2581083221 cites W1979878015 @default.
• W2581083221 cites W1985916187 @default.
• W2581083221 cites W1987218634 @default.
• W2581083221 cites W1987425031 @default.
• W2581083221 cites W1988130713 @default.
• W2581083221 cites W1996168515 @default.
• W2581083221 cites W2006241370 @default.
• W2581083221 cites W2008336850 @default.
• W2581083221 cites W2009252977 @default.
• W2581083221 cites W2012044302 @default.
• W2581083221 cites W2013940523 @default.
• W2581083221 cites W2023021491 @default.
• W2581083221 cites W2023848574 @default.
• W2581083221 cites W2023979316 @default.
• W2581083221 cites W2030193400 @default.
• W2581083221 cites W2032051703 @default.
• W2581083221 cites W2032327249 @default.
• W2581083221 cites W2033292266 @default.
• W2581083221 cites W2035994139 @default.
• W2581083221 cites W2036055444 @default.
• W2581083221 cites W2036687894 @default.
• W2581083221 cites W2038753879 @default.
• W2581083221 cites W2046060908 @default.
• W2581083221 cites W2046984814 @default.
• W2581083221 cites W2048719683 @default.
• W2581083221 cites W2053677439 @default.
• W2581083221 cites W2056896498 @default.
• W2581083221 cites W2059710782 @default.
• W2581083221 cites W2059999532 @default.
• W2581083221 cites W2060273459 @default.
• W2581083221 cites W2061860088 @default.
• W2581083221 cites W2063062036 @default.
• W2581083221 cites W2063763441 @default.
• W2581083221 cites W2065007080 @default.
• W2581083221 cites W2073676586 @default.
• W2581083221 cites W2075937326 @default.
• W2581083221 cites W2079527931 @default.
• W2581083221 cites W2082103876 @default.
• W2581083221 cites W2083664024 @default.
• W2581083221 cites W2083702805 @default.
• W2581083221 cites W2084814184 @default.
• W2581083221 cites W2085194212 @default.
• W2581083221 cites W2085616796 @default.
• W2581083221 cites W2088257569 @default.
• W2581083221 cites W2090524722 @default.
• W2581083221 cites W2094237386 @default.
• W2581083221 cites W2102551623 @default.
• W2581083221 cites W2103017993 @default.
• W2581083221 cites W2104934425 @default.
• W2581083221 cites W2107640432 @default.
• W2581083221 cites W2108069203 @default.
• W2581083221 cites W2108522659 @default.
• W2581083221 cites W2109363299 @default.
• W2581083221 cites W2113710433 @default.
• W2581083221 cites W2116012995 @default.
• W2581083221 cites W2116133014 @default.
• W2581083221 cites W2116869192 @default.
• W2581083221 cites W2118217258 @default.
• W2581083221 cites W2119324304 @default.
• W2581083221 cites W2126678935 @default.
• W2581083221 cites W2127867955 @default.
• W2581083221 cites W2129413349 @default.
• W2581083221 cites W2130854583 @default.
• W2581083221 cites W2134970351 @default.
• W2581083221 cites W2136055674 @default.
• W2581083221 cites W2141368302 @default.
• W2581083221 cites W2142582911 @default.
• W2581083221 cites W2143697569 @default.
• W2581083221 cites W2148629244 @default.
• W2581083221 cites W2148725268 @default.
• W2581083221 cites W2153899927 @default.
• W2581083221 cites W2157034017 @default.
• W2581083221 cites W2160429342 @default.
• W2581083221 cites W2164366125 @default.
• W2581083221 cites W2166680226 @default.
• W2581083221 cites W2167488708 @default.
• W2581083221 cites W2169518694 @default.
• W2581083221 cites W2170958317 @default.
• W2581083221 cites W2282015884 @default.
• W2581083221 cites W2520163263 @default.
• W2581083221 cites W2915755317 @default.

• next