Recent advances in chronic granulomatous disease
Identifieur interne : 000482 ( Main/Exploration ); précédent : 000481; suivant : 000483Recent advances in chronic granulomatous disease
Auteurs : Gummadi Anjani ; Pandiarajan Vignesh ; Vibhu Joshi ; Jitendra Kumar Shandilya ; Dharmagat Bhattarai ; Jyoti Sharma ; Amit RawatSource :
- Genes & Diseases [ 2352-4820 ] ; 2019.
Abstract
Chronic granulomatous disease (CGD) is an inherited defect of phagocyte function due to defective NADPH oxidase. Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen free radicals and are prone to recurrent bacterial and fungal infections. Inflammatory complications are also noted in CGD such as colitis, non-infective granulomas causing gastrointestinal or urinary tract obstruction, hemophagocytic lymphohistiocytosis, and arthritis. Studies on toll-like receptor pathways and neutrophil extracellular traps in CGD have shed light on the role of NADPH oxidase in the innate immunity and pathogenesis of infections in CGD. Some reports also indicate a reduction of memory B cells and defective production of functional antibodies in CGD. Though the exact mechanisms for non-infective inflammatory complications in CGD are not yet clear, studies on efferocytosis and defective autophagy with inflammasome activation have made a substantial contribution to our understanding of the pathogenesis of inflammation in CGD. We also discuss the clinical and molecular features of p40phox defects and a newer genetic defect,
Url:
DOI: 10.1016/j.gendis.2019.07.010
PubMed: 32181279
PubMed Central: 7063432
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Recent advances in chronic granulomatous disease</title><author><name sortKey="Anjani, Gummadi" sort="Anjani, Gummadi" uniqKey="Anjani G" first="Gummadi" last="Anjani">Gummadi Anjani</name></author><author><name sortKey="Vignesh, Pandiarajan" sort="Vignesh, Pandiarajan" uniqKey="Vignesh P" first="Pandiarajan" last="Vignesh">Pandiarajan Vignesh</name></author><author><name sortKey="Joshi, Vibhu" sort="Joshi, Vibhu" uniqKey="Joshi V" first="Vibhu" last="Joshi">Vibhu Joshi</name></author><author><name sortKey="Shandilya, Jitendra Kumar" sort="Shandilya, Jitendra Kumar" uniqKey="Shandilya J" first="Jitendra Kumar" last="Shandilya">Jitendra Kumar Shandilya</name></author><author><name sortKey="Bhattarai, Dharmagat" sort="Bhattarai, Dharmagat" uniqKey="Bhattarai D" first="Dharmagat" last="Bhattarai">Dharmagat Bhattarai</name></author><author><name sortKey="Sharma, Jyoti" sort="Sharma, Jyoti" uniqKey="Sharma J" first="Jyoti" last="Sharma">Jyoti Sharma</name></author><author><name sortKey="Rawat, Amit" sort="Rawat, Amit" uniqKey="Rawat A" first="Amit" last="Rawat">Amit Rawat</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">32181279</idno><idno type="pmc">7063432</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063432</idno><idno type="RBID">PMC:7063432</idno><idno type="doi">10.1016/j.gendis.2019.07.010</idno><date when="2019">2019</date><idno type="wicri:Area/Pmc/Corpus">000A00</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000A00</idno><idno type="wicri:Area/Pmc/Curation">000A00</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000A00</idno><idno type="wicri:Area/Pmc/Checkpoint">000438</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000438</idno><idno type="wicri:Area/Ncbi/Merge">001028</idno><idno type="wicri:Area/Ncbi/Curation">001028</idno><idno type="wicri:Area/Ncbi/Checkpoint">001028</idno><idno type="wicri:doubleKey">2352-4820:2019:Anjani G:recent:advances:in</idno><idno type="wicri:Area/Main/Merge">000482</idno><idno type="wicri:Area/Main/Curation">000482</idno><idno type="wicri:Area/Main/Exploration">000482</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Recent advances in chronic granulomatous disease</title><author><name sortKey="Anjani, Gummadi" sort="Anjani, Gummadi" uniqKey="Anjani G" first="Gummadi" last="Anjani">Gummadi Anjani</name></author><author><name sortKey="Vignesh, Pandiarajan" sort="Vignesh, Pandiarajan" uniqKey="Vignesh P" first="Pandiarajan" last="Vignesh">Pandiarajan Vignesh</name></author><author><name sortKey="Joshi, Vibhu" sort="Joshi, Vibhu" uniqKey="Joshi V" first="Vibhu" last="Joshi">Vibhu Joshi</name></author><author><name sortKey="Shandilya, Jitendra Kumar" sort="Shandilya, Jitendra Kumar" uniqKey="Shandilya J" first="Jitendra Kumar" last="Shandilya">Jitendra Kumar Shandilya</name></author><author><name sortKey="Bhattarai, Dharmagat" sort="Bhattarai, Dharmagat" uniqKey="Bhattarai D" first="Dharmagat" last="Bhattarai">Dharmagat Bhattarai</name></author><author><name sortKey="Sharma, Jyoti" sort="Sharma, Jyoti" uniqKey="Sharma J" first="Jyoti" last="Sharma">Jyoti Sharma</name></author><author><name sortKey="Rawat, Amit" sort="Rawat, Amit" uniqKey="Rawat A" first="Amit" last="Rawat">Amit Rawat</name></author></analytic><series><title level="j">Genes & Diseases</title><idno type="ISSN">2352-4820</idno><idno type="eISSN">2352-3042</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Chronic granulomatous disease (CGD) is an inherited defect of phagocyte function due to defective NADPH oxidase. Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen free radicals and are prone to recurrent bacterial and fungal infections. Inflammatory complications are also noted in CGD such as colitis, non-infective granulomas causing gastrointestinal or urinary tract obstruction, hemophagocytic lymphohistiocytosis, and arthritis. Studies on toll-like receptor pathways and neutrophil extracellular traps in CGD have shed light on the role of NADPH oxidase in the innate immunity and pathogenesis of infections in CGD. Some reports also indicate a reduction of memory B cells and defective production of functional antibodies in CGD. Though the exact mechanisms for non-infective inflammatory complications in CGD are not yet clear, studies on efferocytosis and defective autophagy with inflammasome activation have made a substantial contribution to our understanding of the pathogenesis of inflammation in CGD. We also discuss the clinical and molecular features of p40<sup>phox</sup> defects and a newer genetic defect, <italic>EROS</italic>. Clinical phenotypes of X-linked carriers of <italic>CYBB</italic> are also discussed.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Mouy, R" uniqKey="Mouy R">R. Mouy</name></author><author><name sortKey="Fischer, A" uniqKey="Fischer A">A. Fischer</name></author><author><name sortKey="Vilmer, E" uniqKey="Vilmer E">E. Vilmer</name></author><author><name sortKey="Seger, R" uniqKey="Seger R">R. Seger</name></author><author><name sortKey="Griscelli, C" uniqKey="Griscelli C">C. Griscelli</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Van Den Berg, J M" uniqKey="Van Den Berg J">J.M. van den Berg</name></author><author><name sortKey="Van Koppen, E" uniqKey="Van Koppen E">E. van Koppen</name></author><author><name sortKey="Ahlin, A" uniqKey="Ahlin A">A. 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Gennery</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list></list><tree><noCountry><name sortKey="Anjani, Gummadi" sort="Anjani, Gummadi" uniqKey="Anjani G" first="Gummadi" last="Anjani">Gummadi Anjani</name><name sortKey="Bhattarai, Dharmagat" sort="Bhattarai, Dharmagat" uniqKey="Bhattarai D" first="Dharmagat" last="Bhattarai">Dharmagat Bhattarai</name><name sortKey="Joshi, Vibhu" sort="Joshi, Vibhu" uniqKey="Joshi V" first="Vibhu" last="Joshi">Vibhu Joshi</name><name sortKey="Rawat, Amit" sort="Rawat, Amit" uniqKey="Rawat A" first="Amit" last="Rawat">Amit Rawat</name><name sortKey="Shandilya, Jitendra Kumar" sort="Shandilya, Jitendra Kumar" uniqKey="Shandilya J" first="Jitendra Kumar" last="Shandilya">Jitendra Kumar Shandilya</name><name sortKey="Sharma, Jyoti" sort="Sharma, Jyoti" uniqKey="Sharma J" first="Jyoti" last="Sharma">Jyoti Sharma</name><name sortKey="Vignesh, Pandiarajan" sort="Vignesh, Pandiarajan" uniqKey="Vignesh P" first="Pandiarajan" last="Vignesh">Pandiarajan Vignesh</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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