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Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity
المؤلفون المشاركون
Bahal, Sameer
Houssen, Maha E.
Manson, Ania
Lorenzo, Lorena
Russell, Mark A.
Morgan, Noel G.
Tahami, Fariba
Grigoriadou, Sofia
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-10-13
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
We present the case of a 19-year-old female with a mild form of Autosomal Dominant Hyper IgE syndrome (HIES) associated with a loss-of-function mutation in STAT3.
Within the first years of life she developed multiple, Staphylococcus aureus associated abscesses in the neck and face requiring frequent incision and drainage.
Respiratory tract infections were not a feature of the clinical phenotype and a high resolution thoracic CT scan was unremarkable.
Retained dentition was noted but fungal nail disease and recurrent thrush were absent.
The total IgE was 970 IU/L, Lymphocyte counts and immunoglobulin levels were normal (IgG borderline 18.5 gr/L).
There was suboptimal response to test immunisation with Pneumovax II vaccine.
Th17 cell phenotyping revealed low levels of IL-17 expressing cells (0.3% of total CD4 T Cells numbers).
Genetic analysis identified a missense mutation, N567D, in a conserved region of the linker domain of STAT3.
Functional studies in HEK293 cells reveal that this mutation potently inhibits STAT3 activity when compared to the wildtype protein.
This is consistent with other reported mutations in STAT3 associated with HIES.
However, surprisingly, the magnitude of inhibition was similar to another STAT3 mutation (V637M) which causes a much more severe form of the disease.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Bahal, Sameer& Houssen, Maha E.& Manson, Ania& Lorenzo, Lorena& Russell, Mark A.& Morgan, Noel G.…[et al.]. 2019. Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity. Case Reports in Immunology،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136861
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Bahal, Sameer…[et al.]. Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity. Case Reports in Immunology No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1136861
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Bahal, Sameer& Houssen, Maha E.& Manson, Ania& Lorenzo, Lorena& Russell, Mark A.& Morgan, Noel G.…[et al.]. Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity. Case Reports in Immunology. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136861
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1136861
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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