Recent advances in chronic granulomatous disease
Identifieur interne : 000438 ( Pmc/Checkpoint ); précédent : 000437; suivant : 000439Recent 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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<author><name sortKey="Vignesh, Pandiarajan" sort="Vignesh, Pandiarajan" uniqKey="Vignesh P" first="Pandiarajan" last="Vignesh">Pandiarajan Vignesh</name>
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<author><name sortKey="Joshi, Vibhu" sort="Joshi, Vibhu" uniqKey="Joshi V" first="Vibhu" last="Joshi">Vibhu Joshi</name>
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<author><name sortKey="Shandilya, Jitendra Kumar" sort="Shandilya, Jitendra Kumar" uniqKey="Shandilya J" first="Jitendra Kumar" last="Shandilya">Jitendra Kumar Shandilya</name>
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<author><name sortKey="Bhattarai, Dharmagat" sort="Bhattarai, Dharmagat" uniqKey="Bhattarai D" first="Dharmagat" last="Bhattarai">Dharmagat Bhattarai</name>
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<author><name sortKey="Sharma, Jyoti" sort="Sharma, Jyoti" uniqKey="Sharma J" first="Jyoti" last="Sharma">Jyoti Sharma</name>
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<author><name sortKey="Shandilya, Jitendra Kumar" sort="Shandilya, Jitendra Kumar" uniqKey="Shandilya J" first="Jitendra Kumar" last="Shandilya">Jitendra Kumar Shandilya</name>
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<author><name sortKey="Bhattarai, Dharmagat" sort="Bhattarai, Dharmagat" uniqKey="Bhattarai D" first="Dharmagat" last="Bhattarai">Dharmagat Bhattarai</name>
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<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>
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</TEI>
<pmc article-type="review-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Genes Dis</journal-id>
<journal-id journal-id-type="iso-abbrev">Genes Dis</journal-id>
<journal-title-group><journal-title>Genes & Diseases</journal-title>
</journal-title-group>
<issn pub-type="ppub">2352-4820</issn>
<issn pub-type="epub">2352-3042</issn>
<publisher><publisher-name>Chongqing Medical University</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">32181279</article-id>
<article-id pub-id-type="pmc">7063432</article-id>
<article-id pub-id-type="publisher-id">S2352-3042(19)30054-6</article-id>
<article-id pub-id-type="doi">10.1016/j.gendis.2019.07.010</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Recent advances in chronic granulomatous disease</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" id="au1"><name><surname>Anjani</surname>
<given-names>Gummadi</given-names>
</name>
</contrib>
<contrib contrib-type="author" id="au2"><name><surname>Vignesh</surname>
<given-names>Pandiarajan</given-names>
</name>
<email>vigimmc@gmail.com</email>
<xref rid="cor1" ref-type="corresp">∗</xref>
</contrib>
<contrib contrib-type="author" id="au3"><name><surname>Joshi</surname>
<given-names>Vibhu</given-names>
</name>
</contrib>
<contrib contrib-type="author" id="au4"><name><surname>Shandilya</surname>
<given-names>Jitendra Kumar</given-names>
</name>
</contrib>
<contrib contrib-type="author" id="au5"><name><surname>Bhattarai</surname>
<given-names>Dharmagat</given-names>
</name>
</contrib>
<contrib contrib-type="author" id="au6"><name><surname>Sharma</surname>
<given-names>Jyoti</given-names>
</name>
</contrib>
<contrib contrib-type="author" id="au7"><name><surname>Rawat</surname>
<given-names>Amit</given-names>
</name>
</contrib>
</contrib-group>
<aff id="aff1">Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India</aff>
<author-notes><corresp id="cor1"><label>∗</label>
Corresponding author. Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India. Fax: +91 172 2744401. <email>vigimmc@gmail.com</email>
</corresp>
</author-notes>
<pub-date pub-type="pmc-release"><day>27</day>
<month>7</month>
<year>2019</year>
</pub-date>
<pmc-comment> PMC Release delay is 0 months and 0 days and was based on .</pmc-comment>
<pub-date pub-type="collection"><month>3</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub"><day>27</day>
<month>7</month>
<year>2019</year>
</pub-date>
<volume>7</volume>
<issue>1</issue>
<fpage>84</fpage>
<lpage>92</lpage>
<history><date date-type="received"><day>10</day>
<month>4</month>
<year>2019</year>
</date>
<date date-type="rev-recd"><day>10</day>
<month>7</month>
<year>2019</year>
</date>
<date date-type="accepted"><day>21</day>
<month>7</month>
<year>2019</year>
</date>
</history>
<permissions><copyright-statement>© 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.</copyright-statement>
<copyright-year>2019</copyright-year>
<copyright-holder>Chongqing Medical University</copyright-holder>
<license license-type="CC BY-NC-ND" xlink:href="http://creativecommons.org/licenses/by-nc-nd/4.0/"><license-p>This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).</license-p>
</license>
</permissions>
<abstract id="abs0010"><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>
</abstract>
<kwd-group id="kwrds0010"><title>Keywords</title>
<kwd>Chronic granulomatous disease</kwd>
<kwd>Colitis</kwd>
<kwd>EROS</kwd>
<kwd>Genetics</kwd>
<kwd>Infections</kwd>
<kwd>Inflammation</kwd>
<kwd>p40phox</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
<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>
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