File Download

Conference Paper: Unique pattern of infections in chronic granulomatous disease – The Asian experience

TitleUnique pattern of infections in chronic granulomatous disease – The Asian experience
Authors
Issue Date2013
PublisherAsian Society for Pediatric Research (ASPR) and the Perinatal Society of Malaysia (PSM).
Citation
The 2013 joint Scientific Meeting of the 9th Asian Society for Pediatric Research (ASPR) Congress and the 20th Perinatal Society of Malaysia (PSM) Annual Congress (ASPR / PSM 2013), Sarawak, Malaysia, 9-12 May 2013. In the Souvenir programme & Abstract Book, 2013, p. 85, abstract no. FP 152 How to Cite?
AbstractBackground: Chronic granulomatous disease (CGD) is a phagocytic disorder caused by defective NADPH oxidase activity. Affected individuals are susceptible to bacterial infections, mycosis and hyperinflammatory complications. Variations in the epidemiology of infectious diseases across geographical regions can lead to distinct clinical phenotypes. Objective: To identify the unique clinical characteristics of a large cohort of CGD patients in China and Southeast Asia referred for genetic studies from 2003 to 2012. Methods: 53 patients with genetically-confirmed CGD were included and their clinical features were analyzed. CYBB and CYBA mutations were studied by Sanger sequencing, and NCF1 ‘GT’ deletion hotspot mutation was studied on genomic DNA by GeneScan. Results: 44 patients with X-CGD had CYBB mutations (missense[n=16]; nonsense[n=8]; deletion[n=9]; insertion[n=2]; intron mutation[n=9]). Nine patient had AR-CGD (CYBA[n=5]; NCF1 75_76delGT[n=4]). The median age at presentation and diagnosis was higher in AR-CGD (7m and 66m) compared with X-CGD (3m and 22m). The commonest presentations were pneumonia (58%), skin and perianal abscess (49%), lymphadenitis (42%) and recurrent diarrhea (30%). Aspergillosis and salmonellosis occurred at a frequency similar to published studies (13% and 19% respectively), but the commonest infection was BCG (43%) and 11% had disseminated BCG. 21% of patients had tuberculosis. Fulminant melioidosis and Chromobacterium violaceum infections occurred in 3 patients and two of their male siblings. Hyperinflammatory conditions included polyarthritis (n=3) and pulmonary granuloma (n=2). Death was recorded in 8 patients (15%). Conclusion: Melioidosis and C. violaceum indigenous to Southeast Asia can cause life-threatening infections in CGD patients. The high incidence of mycobacterial infections is associated with universal BCG vaccination and endemicity of tuberculosis. Such observations emphasize the role of respiratory burst as an immune defense mechanism against these pathogens. These infections are seldom reported in Caucasian cohorts, illustrating the importance of regional collaborative studies to facilitate pattern recognition and early diagnosis of primary immunodeficiencies.
DescriptionConference Theme: Inflammatory Basis of Perinatal and Childhood Diseases
Symposium 40: Infection
Persistent Identifierhttp://hdl.handle.net/10722/185077

 

DC FieldValueLanguage
dc.contributor.authorLee, PPWen_US
dc.contributor.authorHe, JXen_US
dc.contributor.authorChan, KWen_US
dc.contributor.authorYang, Wen_US
dc.contributor.authorJiang, LPen_US
dc.contributor.authorLiew, WKen_US
dc.contributor.authorChen, TXen_US
dc.contributor.authorHo, MHKen_US
dc.contributor.authorLee, TLen_US
dc.contributor.authorLau, YLen_US
dc.date.accessioned2013-07-15T10:28:43Z-
dc.date.available2013-07-15T10:28:43Z-
dc.date.issued2013en_US
dc.identifier.citationThe 2013 joint Scientific Meeting of the 9th Asian Society for Pediatric Research (ASPR) Congress and the 20th Perinatal Society of Malaysia (PSM) Annual Congress (ASPR / PSM 2013), Sarawak, Malaysia, 9-12 May 2013. In the Souvenir programme & Abstract Book, 2013, p. 85, abstract no. FP 152en_US
dc.identifier.urihttp://hdl.handle.net/10722/185077-
dc.descriptionConference Theme: Inflammatory Basis of Perinatal and Childhood Diseases-
dc.descriptionSymposium 40: Infection-
dc.description.abstractBackground: Chronic granulomatous disease (CGD) is a phagocytic disorder caused by defective NADPH oxidase activity. Affected individuals are susceptible to bacterial infections, mycosis and hyperinflammatory complications. Variations in the epidemiology of infectious diseases across geographical regions can lead to distinct clinical phenotypes. Objective: To identify the unique clinical characteristics of a large cohort of CGD patients in China and Southeast Asia referred for genetic studies from 2003 to 2012. Methods: 53 patients with genetically-confirmed CGD were included and their clinical features were analyzed. CYBB and CYBA mutations were studied by Sanger sequencing, and NCF1 ‘GT’ deletion hotspot mutation was studied on genomic DNA by GeneScan. Results: 44 patients with X-CGD had CYBB mutations (missense[n=16]; nonsense[n=8]; deletion[n=9]; insertion[n=2]; intron mutation[n=9]). Nine patient had AR-CGD (CYBA[n=5]; NCF1 75_76delGT[n=4]). The median age at presentation and diagnosis was higher in AR-CGD (7m and 66m) compared with X-CGD (3m and 22m). The commonest presentations were pneumonia (58%), skin and perianal abscess (49%), lymphadenitis (42%) and recurrent diarrhea (30%). Aspergillosis and salmonellosis occurred at a frequency similar to published studies (13% and 19% respectively), but the commonest infection was BCG (43%) and 11% had disseminated BCG. 21% of patients had tuberculosis. Fulminant melioidosis and Chromobacterium violaceum infections occurred in 3 patients and two of their male siblings. Hyperinflammatory conditions included polyarthritis (n=3) and pulmonary granuloma (n=2). Death was recorded in 8 patients (15%). Conclusion: Melioidosis and C. violaceum indigenous to Southeast Asia can cause life-threatening infections in CGD patients. The high incidence of mycobacterial infections is associated with universal BCG vaccination and endemicity of tuberculosis. Such observations emphasize the role of respiratory burst as an immune defense mechanism against these pathogens. These infections are seldom reported in Caucasian cohorts, illustrating the importance of regional collaborative studies to facilitate pattern recognition and early diagnosis of primary immunodeficiencies.-
dc.languageengen_US
dc.publisherAsian Society for Pediatric Research (ASPR) and the Perinatal Society of Malaysia (PSM).-
dc.relation.ispartofASPR / PSM 2013 Joint Scientific Meetingen_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleUnique pattern of infections in chronic granulomatous disease – The Asian experienceen_US
dc.typeConference_Paperen_US
dc.identifier.emailLee, PPW: ppwlee@hku.hken_US
dc.identifier.emailChan, KW: kwchan@hku.hken_US
dc.identifier.emailYang, W: yangwl@hkucc.hku.hken_US
dc.identifier.emailHo, MHK: marcoho@hku.hken_US
dc.identifier.emailLee, TL: leetsz@hkucc.hku.hken_US
dc.identifier.emailLau, YL: lauylung@hku.hken_US
dc.identifier.authorityLee, PPW=rp00462en_US
dc.identifier.authorityYang, W=rp00524en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturepublished_or_final_version-
dc.identifier.hkuros216053en_US
dc.identifier.spage85, abstract no. FP 152-
dc.identifier.epage85, abstract no. FP 152-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats