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Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Review
المؤلفون المشاركون
Chen, Tong-Xin
Wu, Jing
Wang, Wei-Fan
Zhang, Yi-Dan
المصدر
Journal of Immunology Research
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-17، 17ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-01-30
دولة النشر
مصر
عدد الصفحات
17
التخصصات الرئيسية
الملخص EN
Chronic Granulomatous Disease (CGD) is a rare inherited primary immunodeficiency, which is characterized by recurrent infections due to defective phagocyte NADPH oxidase enzyme.
Nowadays, little is known about Chinese CGD patients.
Here we report 48 CGD patients in our single center study, which is the largest cohort study from Mainland China.
The ratio of male to female was 11 : 1.
The mean onset age was 0.29 years old, and 52% patients had an onset within the 1st month of life.
The mean diagnosis age was 2.24 years old.
11 patients (23%) had died with an average age of 2.91 years old.
13 patients (28%) had positive family histories.
The most prevalent infectious sites were the lungs (77%), followed by gastrointestinal tract (54%), lymph nodes (50%), and skin (46%).
In addition, septicopyemia, thrush, and hepatosplenomegaly were also commonly observed, accounting for 23%, 23%, and 40% of the cases.
Lesions due to BCG vaccination occurred in more than half of the patients.
X-linked CGD due to CYBB gene mutations accounted for 75% of the cases, and 11 of them were novel mutations.
Autosomal recessive inheritance accounted for 6% patients, including 1 patient with CYBA, 1 with NCF1, and 1 with NCF2 gene mutations.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Wu, Jing& Wang, Wei-Fan& Zhang, Yi-Dan& Chen, Tong-Xin. 2017. Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Review. Journal of Immunology Research،Vol. 2017, no. 2017, pp.1-17.
https://search.emarefa.net/detail/BIM-1182176
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Wu, Jing…[et al.]. Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Review. Journal of Immunology Research No. 2017 (2017), pp.1-17.
https://search.emarefa.net/detail/BIM-1182176
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Wu, Jing& Wang, Wei-Fan& Zhang, Yi-Dan& Chen, Tong-Xin. Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Review. Journal of Immunology Research. 2017. Vol. 2017, no. 2017, pp.1-17.
https://search.emarefa.net/detail/BIM-1182176
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1182176
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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