Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing
المؤلفون المشاركون
Li, Ran
Zheng, Yali
Li, Yuqian
Zhang, Rongbao
Wang, Fang
Yang, Donghong
Ma, Yanliang
Cao, Zhaolong
Gao, Zhancheng
Mu, Xinlin
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-09-30
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Common variable immunodeficiency (CVID) belongs to the primary immunodeficiency disorders (PIDs), presenting a profound heterogeneity in phenotype and genotype, with monogenic or complex causes.
Recurrent respiratory infections are the most common clinical manifestations.
CVID patients can also develop various autoimmune and lymphoproliferative complications.
Genetic testing such as whole exome sequencing (WES) can be utilized to investigate likely genetic defects, helping for better clinical management.
We described the clinical phenotypes of three sporadic cases of CVID, who developed recurrent respiratory infections with different autoimmune and lymphoproliferative complications.
WES was applied to screen disease-causing or disease-associated mutations.
Two patients were identified to have monogenic disorders, with compound heterozygous mutations in LRBA for one patient and a frameshift insertion in NFKB1 for another.
The third patient was identified to be a complex form of CVID.
Two novel mutations were identified, respectively, in LRBA and NFKB1.
A combination of clinical and genetic diagnosis can be more extensively utilized in the clinical practice due to the complexity and heterogeneity of CVID.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Li, Ran& Zheng, Yali& Li, Yuqian& Zhang, Rongbao& Wang, Fang& Yang, Donghong…[et al.]. 2018. Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing. BioMed Research International،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1126054
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Li, Ran…[et al.]. Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing. BioMed Research International No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1126054
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Li, Ran& Zheng, Yali& Li, Yuqian& Zhang, Rongbao& Wang, Fang& Yang, Donghong…[et al.]. Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1126054
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1126054
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر