Whole exome sequencing and molecular modeling of a missense variant in TNFAIP3 that segregates with disease in a family with chronic urticaria and angioedema

Harris, A. L., Blackburn, P. R., Richter, J. E., Gass, J. M., Caulfield, T. R., Mohammad, A. N. and Atwal, P. S. (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, 2018, 6968395. (doi: 10.1155/2018/6968395) (PMID:29682366) (PMCID:PMC5842716)

Abstract

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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Atwal, Dr Paldeep
• Authors: Harris, A. L., Blackburn, P. R., Richter, J. E., Gass, J. M., Caulfield, T. R., Mohammad, A. N., and Atwal, P. S.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Case Reports in Genetics
• Publisher: Hindawi
• ISSN: 2090-6544
• ISSN (Online): 2090-6552
• Published Online: 22 February 2018
• Copyright Holders: Copyright © 2018 Antoneicka L. Harris et al.
• First Published: First published in Case Reports in Genetics 2018: 6968395
• Publisher Policy: Reproduced under a Creative Commons License