Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India
Chronic granulomatous disease (CGD) results from an inherited defect in the phagocytic cells of the immune system. It is a genetically heterogenous disease caused by defects in one of the five major subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. There is a pauci...
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| Veröffentlicht in: | Journal of clinical immunology 2014, Vol.34 (1), p.58-67 |
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| creator | Rawat, Amit Singh, Surjit Suri, Deepti Gupta, Anju Saikia, Biman Minz, Ranjana Walker Sehgal, Shobha Vaiphei, Kim Kamae, C. Honma, K. Nakagawa, N. Imai, K. Nonoyama, S. Oshima, K. Mitsuiki, N. Ohara, O. Chan, Koon-Wing Lau, Yu Lung |
| description | Chronic granulomatous disease (CGD) results from an inherited defect in the phagocytic cells of the immune system. It is a genetically heterogenous disease caused by defects in one of the five major subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. There is a paucity of data from India on CGD. We herein describe the clinical features in 17 children with CGD from a single tertiary referral center in India. A detailed analysis of the clinical features, laboratory investigations and outcome of 17 children 7 with X-linked (XL) and 10 with autosomal recessive (AR) form was performed. Diagnosis of CGD was based on an abnormal granulocyte oxidative burst evaluated by either Nitroblue Tetrazolium (NBT) test or flow cytometry based Dihyrorhodamine 123 assay or both. The molecular diagnosis was confirmed by genetic mutation analysis in 13 cases. The mean age at diagnosis and the age at onset of symptoms was significantly lower in children diagnosed with XL- CGD compared those with AR disease. Mutations were detected in
CYBB
gene in 6 patients with XL-CGD and
NCF-1
gene mutations were observed in 7 cases of AR- CGD. The course and outcome of the disease was much worse in children diagnosed with X-linked form of disease compared to AR forms of the disease; 4/7 (57 %) children with X-CGD were dead at the time of data analysis. This is one of the largest series on chronic granulomatous disease from any developing country. |
| doi_str_mv | 10.1007/s10875-013-9963-5 |
| format | Article |
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CYBB
gene in 6 patients with XL-CGD and
NCF-1
gene mutations were observed in 7 cases of AR- CGD. The course and outcome of the disease was much worse in children diagnosed with X-linked form of disease compared to AR forms of the disease; 4/7 (57 %) children with X-CGD were dead at the time of data analysis. This is one of the largest series on chronic granulomatous disease from any developing country.</description><identifier>ISSN: 0271-9142</identifier><identifier>EISSN: 1573-2592</identifier><identifier>DOI: 10.1007/s10875-013-9963-5</identifier><identifier>PMID: 24276928</identifier><identifier>CODEN: JCIMDO</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Age of Onset ; Biomedical and Life Sciences ; Biomedicine ; Cause of Death ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Granulomatous Disease, Chronic - complications ; Granulomatous Disease, Chronic - diagnosis ; Granulomatous Disease, Chronic - epidemiology ; Granulomatous Disease, Chronic - genetics ; Hospital Mortality ; Humans ; Immunology ; India ; Infant ; Infant, Newborn ; Infection - etiology ; Infection - microbiology ; Infectious Diseases ; Internal Medicine ; Male ; Medical Microbiology ; Mutation ; Original Research ; Prognosis ; Tertiary Care Centers</subject><ispartof>Journal of clinical immunology, 2014, Vol.34 (1), p.58-67</ispartof><rights>Springer Science+Business Media New York 2013</rights><rights>Springer Science+Business Media New York 2014</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-1f385e360f617842a2a33cefd29fce6ad387a50422de7d2af8034e05bda033843</citedby><cites>FETCH-LOGICAL-c405t-1f385e360f617842a2a33cefd29fce6ad387a50422de7d2af8034e05bda033843</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10875-013-9963-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10875-013-9963-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24276928$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rawat, Amit</creatorcontrib><creatorcontrib>Singh, Surjit</creatorcontrib><creatorcontrib>Suri, Deepti</creatorcontrib><creatorcontrib>Gupta, Anju</creatorcontrib><creatorcontrib>Saikia, Biman</creatorcontrib><creatorcontrib>Minz, Ranjana Walker</creatorcontrib><creatorcontrib>Sehgal, Shobha</creatorcontrib><creatorcontrib>Vaiphei, Kim</creatorcontrib><creatorcontrib>Kamae, C.</creatorcontrib><creatorcontrib>Honma, K.</creatorcontrib><creatorcontrib>Nakagawa, N.</creatorcontrib><creatorcontrib>Imai, K.</creatorcontrib><creatorcontrib>Nonoyama, S.</creatorcontrib><creatorcontrib>Oshima, K.</creatorcontrib><creatorcontrib>Mitsuiki, N.</creatorcontrib><creatorcontrib>Ohara, O.</creatorcontrib><creatorcontrib>Chan, Koon-Wing</creatorcontrib><creatorcontrib>Lau, Yu Lung</creatorcontrib><title>Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India</title><title>Journal of clinical immunology</title><addtitle>J Clin Immunol</addtitle><addtitle>J Clin Immunol</addtitle><description>Chronic granulomatous disease (CGD) results from an inherited defect in the phagocytic cells of the immune system. It is a genetically heterogenous disease caused by defects in one of the five major subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. There is a paucity of data from India on CGD. We herein describe the clinical features in 17 children with CGD from a single tertiary referral center in India. A detailed analysis of the clinical features, laboratory investigations and outcome of 17 children 7 with X-linked (XL) and 10 with autosomal recessive (AR) form was performed. Diagnosis of CGD was based on an abnormal granulocyte oxidative burst evaluated by either Nitroblue Tetrazolium (NBT) test or flow cytometry based Dihyrorhodamine 123 assay or both. The molecular diagnosis was confirmed by genetic mutation analysis in 13 cases. The mean age at diagnosis and the age at onset of symptoms was significantly lower in children diagnosed with XL- CGD compared those with AR disease. Mutations were detected in
CYBB
gene in 6 patients with XL-CGD and
NCF-1
gene mutations were observed in 7 cases of AR- CGD. The course and outcome of the disease was much worse in children diagnosed with X-linked form of disease compared to AR forms of the disease; 4/7 (57 %) children with X-CGD were dead at the time of data analysis. This is one of the largest series on chronic granulomatous disease from any developing country.</description><subject>Age of Onset</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cause of Death</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Granulomatous Disease, Chronic - complications</subject><subject>Granulomatous Disease, Chronic - diagnosis</subject><subject>Granulomatous Disease, Chronic - epidemiology</subject><subject>Granulomatous Disease, Chronic - genetics</subject><subject>Hospital Mortality</subject><subject>Humans</subject><subject>Immunology</subject><subject>India</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infection - etiology</subject><subject>Infection - microbiology</subject><subject>Infectious Diseases</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Medical Microbiology</subject><subject>Mutation</subject><subject>Original Research</subject><subject>Prognosis</subject><subject>Tertiary Care Centers</subject><issn>0271-9142</issn><issn>1573-2592</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkU9LxDAQxYMo7vrnA3iRgBcv1UnSNK03qa4KopcVjyG2U7fLNlmTFvXbm2VVRBA8zWF-8x5vHiEHDE4YgDoNDHIlE2AiKYpMJHKDjJlUIuGy4JtkDFyxpGApH5GdEOYAIDIut8mIp1xlBc_HZFbOvLNtRa-8scPCdaZ3Q6AXbUAT8IxOXx29wMrUGKhr6OXbEn2LtkI68a6jhk7R963x77Q0HmmJto-jtfTO-X5GHzH09MbWrdkjW41ZBNz_nLvkYXI5La-T2_urm_L8NqlSkH3CGpFLFBk0GVN5yg03QlTY1LxoKsxMLXJlJKSc16hqbpocRIogn2oDQuSp2CXHa92ldy9DtNddGypcLIzFmEwzCVIIVcjsPygTSvJCRfToFzp3g7cxyIqCTEpQLFJsTVXeheCx0UvfdvE5moFeNabXjemoq1eNaRlvDj-Vh6cO6--Lr4oiwNdAiCv7jP6H9Z-qH5e8nto</recordid><startdate>2014</startdate><enddate>2014</enddate><creator>Rawat, Amit</creator><creator>Singh, Surjit</creator><creator>Suri, Deepti</creator><creator>Gupta, Anju</creator><creator>Saikia, Biman</creator><creator>Minz, Ranjana Walker</creator><creator>Sehgal, Shobha</creator><creator>Vaiphei, Kim</creator><creator>Kamae, C.</creator><creator>Honma, K.</creator><creator>Nakagawa, N.</creator><creator>Imai, K.</creator><creator>Nonoyama, S.</creator><creator>Oshima, K.</creator><creator>Mitsuiki, N.</creator><creator>Ohara, O.</creator><creator>Chan, Koon-Wing</creator><creator>Lau, Yu Lung</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>2014</creationdate><title>Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India</title><author>Rawat, Amit ; Singh, Surjit ; Suri, Deepti ; Gupta, Anju ; Saikia, Biman ; Minz, Ranjana Walker ; Sehgal, Shobha ; Vaiphei, Kim ; Kamae, C. ; Honma, K. ; Nakagawa, N. ; Imai, K. ; Nonoyama, S. ; Oshima, K. ; Mitsuiki, N. ; Ohara, O. ; Chan, Koon-Wing ; Lau, Yu Lung</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c405t-1f385e360f617842a2a33cefd29fce6ad387a50422de7d2af8034e05bda033843</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Age of Onset</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cause of Death</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Granulomatous Disease, Chronic - complications</topic><topic>Granulomatous Disease, Chronic - diagnosis</topic><topic>Granulomatous Disease, Chronic - epidemiology</topic><topic>Granulomatous Disease, Chronic - genetics</topic><topic>Hospital Mortality</topic><topic>Humans</topic><topic>Immunology</topic><topic>India</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infection - etiology</topic><topic>Infection - microbiology</topic><topic>Infectious Diseases</topic><topic>Internal Medicine</topic><topic>Male</topic><topic>Medical Microbiology</topic><topic>Mutation</topic><topic>Original Research</topic><topic>Prognosis</topic><topic>Tertiary Care Centers</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rawat, Amit</creatorcontrib><creatorcontrib>Singh, Surjit</creatorcontrib><creatorcontrib>Suri, Deepti</creatorcontrib><creatorcontrib>Gupta, Anju</creatorcontrib><creatorcontrib>Saikia, Biman</creatorcontrib><creatorcontrib>Minz, Ranjana Walker</creatorcontrib><creatorcontrib>Sehgal, Shobha</creatorcontrib><creatorcontrib>Vaiphei, Kim</creatorcontrib><creatorcontrib>Kamae, C.</creatorcontrib><creatorcontrib>Honma, K.</creatorcontrib><creatorcontrib>Nakagawa, N.</creatorcontrib><creatorcontrib>Imai, K.</creatorcontrib><creatorcontrib>Nonoyama, S.</creatorcontrib><creatorcontrib>Oshima, K.</creatorcontrib><creatorcontrib>Mitsuiki, N.</creatorcontrib><creatorcontrib>Ohara, O.</creatorcontrib><creatorcontrib>Chan, Koon-Wing</creatorcontrib><creatorcontrib>Lau, Yu Lung</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of clinical immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rawat, Amit</au><au>Singh, Surjit</au><au>Suri, Deepti</au><au>Gupta, Anju</au><au>Saikia, Biman</au><au>Minz, Ranjana Walker</au><au>Sehgal, Shobha</au><au>Vaiphei, Kim</au><au>Kamae, C.</au><au>Honma, K.</au><au>Nakagawa, N.</au><au>Imai, K.</au><au>Nonoyama, S.</au><au>Oshima, K.</au><au>Mitsuiki, N.</au><au>Ohara, O.</au><au>Chan, Koon-Wing</au><au>Lau, Yu Lung</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India</atitle><jtitle>Journal of clinical immunology</jtitle><stitle>J Clin Immunol</stitle><addtitle>J Clin Immunol</addtitle><date>2014</date><risdate>2014</risdate><volume>34</volume><issue>1</issue><spage>58</spage><epage>67</epage><pages>58-67</pages><issn>0271-9142</issn><eissn>1573-2592</eissn><coden>JCIMDO</coden><abstract>Chronic granulomatous disease (CGD) results from an inherited defect in the phagocytic cells of the immune system. It is a genetically heterogenous disease caused by defects in one of the five major subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. There is a paucity of data from India on CGD. We herein describe the clinical features in 17 children with CGD from a single tertiary referral center in India. A detailed analysis of the clinical features, laboratory investigations and outcome of 17 children 7 with X-linked (XL) and 10 with autosomal recessive (AR) form was performed. Diagnosis of CGD was based on an abnormal granulocyte oxidative burst evaluated by either Nitroblue Tetrazolium (NBT) test or flow cytometry based Dihyrorhodamine 123 assay or both. The molecular diagnosis was confirmed by genetic mutation analysis in 13 cases. The mean age at diagnosis and the age at onset of symptoms was significantly lower in children diagnosed with XL- CGD compared those with AR disease. Mutations were detected in
CYBB
gene in 6 patients with XL-CGD and
NCF-1
gene mutations were observed in 7 cases of AR- CGD. The course and outcome of the disease was much worse in children diagnosed with X-linked form of disease compared to AR forms of the disease; 4/7 (57 %) children with X-CGD were dead at the time of data analysis. This is one of the largest series on chronic granulomatous disease from any developing country.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>24276928</pmid><doi>10.1007/s10875-013-9963-5</doi><tpages>10</tpages></addata></record> |
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| subjects | Age of Onset Biomedical and Life Sciences Biomedicine Cause of Death Child Child, Preschool Female Follow-Up Studies Granulomatous Disease, Chronic - complications Granulomatous Disease, Chronic - diagnosis Granulomatous Disease, Chronic - epidemiology Granulomatous Disease, Chronic - genetics Hospital Mortality Humans Immunology India Infant Infant, Newborn Infection - etiology Infection - microbiology Infectious Diseases Internal Medicine Male Medical Microbiology Mutation Original Research Prognosis Tertiary Care Centers |
| title | Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India |
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