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Conference Paper: Unique pattern of infections in chronic granulomatous disease – The Asian experience
Title | Unique pattern of infections in chronic granulomatous disease – The Asian experience |
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Authors | |
Issue Date | 2013 |
Publisher | Asian 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? |
Abstract | Background: 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. |
Description | Conference Theme: Inflammatory Basis of Perinatal and Childhood Diseases Symposium 40: Infection |
Persistent Identifier | http://hdl.handle.net/10722/185077 |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, PPW | en_US |
dc.contributor.author | He, JX | en_US |
dc.contributor.author | Chan, KW | en_US |
dc.contributor.author | Yang, W | en_US |
dc.contributor.author | Jiang, LP | en_US |
dc.contributor.author | Liew, WK | en_US |
dc.contributor.author | Chen, TX | en_US |
dc.contributor.author | Ho, MHK | en_US |
dc.contributor.author | Lee, TL | en_US |
dc.contributor.author | Lau, YL | en_US |
dc.date.accessioned | 2013-07-15T10:28:43Z | - |
dc.date.available | 2013-07-15T10:28:43Z | - |
dc.date.issued | 2013 | en_US |
dc.identifier.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 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/185077 | - |
dc.description | Conference Theme: Inflammatory Basis of Perinatal and Childhood Diseases | - |
dc.description | Symposium 40: Infection | - |
dc.description.abstract | Background: 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.language | eng | en_US |
dc.publisher | Asian Society for Pediatric Research (ASPR) and the Perinatal Society of Malaysia (PSM). | - |
dc.relation.ispartof | ASPR / PSM 2013 Joint Scientific Meeting | en_US |
dc.title | Unique pattern of infections in chronic granulomatous disease – The Asian experience | en_US |
dc.type | Conference_Paper | en_US |
dc.identifier.email | Lee, PPW: ppwlee@hku.hk | en_US |
dc.identifier.email | Chan, KW: kwchan@hku.hk | en_US |
dc.identifier.email | Yang, W: yangwl@hkucc.hku.hk | en_US |
dc.identifier.email | Ho, MHK: marcoho@hku.hk | en_US |
dc.identifier.email | Lee, TL: leetsz@hkucc.hku.hk | en_US |
dc.identifier.email | Lau, YL: lauylung@hku.hk | en_US |
dc.identifier.authority | Lee, PPW=rp00462 | en_US |
dc.identifier.authority | Yang, W=rp00524 | en_US |
dc.identifier.authority | Lau, YL=rp00361 | en_US |
dc.description.nature | published_or_final_version | - |
dc.identifier.hkuros | 216053 | en_US |
dc.identifier.spage | 85, abstract no. FP 152 | - |
dc.identifier.epage | 85, abstract no. FP 152 | - |