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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
Joint Authors
Mohammad, Ahmed
Atwal, Paldeep S.
Harris, Antoneicka L.
Blackburn, Patrick R.
Richter, John E.
Gass, Jennifer M.
Caulfield, Thomas R.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-02-22
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract 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.
American Psychological Association (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
Modern Language Association (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
American Medical Association (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
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143335