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Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
المؤلفون المشاركون
Mohammad, Ahmed
Atwal, Paldeep S.
Harris, Antoneicka L.
Blackburn, Patrick R.
Richter, John E.
Gass, Jennifer M.
Caulfield, Thomas R.
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-02-22
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic.
Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating.
In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis.
The individual had a history significant for urticaria and angioedema beginning in his early 30s.
Interestingly, both the individual’s 41-year-old sister and 12-year-old daughter were also affected with chronic urticaria and severe angioedema.
Whole exome sequencing of the proband and several family members revealed a heterozygous variant of uncertain significance in exon 2 of TNFAIP3, denoted as c.65G>A (p.R22Q), in all affected members.
Variants in TNFAIP3 have been associated with multiple autoimmune diseases, susceptibility to allergy and asthma, and periodic fever syndromes, suggesting that this variant could potentially play a role in disease.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Harris, Antoneicka L.& Blackburn, Patrick R.& Richter, John E.& Gass, Jennifer M.& Caulfield, Thomas R.& Mohammad, Ahmed…[et al.]. 2018. Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1143335
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Harris, Antoneicka L.…[et al.]. Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema. Case Reports in Genetics No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1143335
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Harris, Antoneicka L.& Blackburn, Patrick R.& Richter, John E.& Gass, Jennifer M.& Caulfield, Thomas R.& Mohammad, Ahmed…[et al.]. Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1143335
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1143335
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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