Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager
المؤلفون المشاركون
Karananou, Panagiota
Alataki, Anastasia
Papadopoulou-Alataki, Efimia
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-10-08
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Background.
Human interleukin- (IL-) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently described primary immunodeficiency.
It is a rare, autosomal recessive immunodeficiency that impairs toll/IL-1R immunity, except for the toll-like receptor (TLR) 3- and TLR4-interferon alpha (IFNA)/beta (IFNB) pathways.
Case Report.
We report the first patient in Greece with IRAK-4 deficiency.
From the age of 8 months, she presented with recurrent infections of the upper and lower respiratory tract and skin abscesses.
For this, she had been repeatedly hospitalized and treated empirically with intravenous antibiotics.
No severe viral, mycobacterial, or fungal infections were noted.
Her immunological laboratory evaluation revealed low serum IgA and restored in subsequent measurements; normal IgG, IgM, and IgE; and normal serum IgG subclasses.
Peripheral blood immunophenotyping by flow cytometry and dihydrorhodamine (DHR) test revealed normal counts.
She was able to make functional antibodies against vaccine antigens, including tetanus and diphtheria.
She was administered with empirical IgG substitution for 5 years until the age of 12 years, and she has never experienced invasive bacterial infections so far.
DNA analysis revealed a heterozygous variant in the patient: c.823delT (p.S275fs∗13 at protein level) in the IRAK4 gene.
Conclusions.
The importance of clinical suspicion is emphasized in order to confirm the diagnosis by IRAK4 gene sequencing and provide the appropriate treatment for this rare primary immunodeficiency, as soon as possible.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Karananou, Panagiota& Alataki, Anastasia& Papadopoulou-Alataki, Efimia. 2020. Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager. Case Reports in Immunology،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148018
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Karananou, Panagiota…[et al.]. Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager. Case Reports in Immunology No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1148018
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Karananou, Panagiota& Alataki, Anastasia& Papadopoulou-Alataki, Efimia. Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager. Case Reports in Immunology. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148018
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1148018
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