Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
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...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/6968395 |
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| author | Antoneicka L. Harris Patrick R. Blackburn John E. Richter Jennifer M. Gass Thomas R. Caulfield Ahmed N. Mohammad Paldeep S. Atwal |
| author_facet | Antoneicka L. Harris Patrick R. Blackburn John E. Richter Jennifer M. Gass Thomas R. Caulfield Ahmed N. Mohammad Paldeep S. Atwal |
| author_sort | Antoneicka L. Harris |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-59b20f95a2a04b9db3912f4c3fbe6889 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-59b20f95a2a04b9db3912f4c3fbe68892025-02-03T01:10:09ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/69683956968395Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and AngioedemaAntoneicka L. Harris0Patrick R. Blackburn1John E. Richter2Jennifer M. Gass3Thomas R. Caulfield4Ahmed N. Mohammad5Paldeep S. Atwal6Department of Cancer Biology, Mayo Clinic, Jacksonville, FL, USACenter for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USACenter for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USACenter for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USADepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USACenter for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USACenter for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USAChronic 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.http://dx.doi.org/10.1155/2018/6968395 |
| spellingShingle | Antoneicka L. Harris Patrick R. Blackburn John E. Richter Jennifer M. Gass Thomas R. Caulfield Ahmed N. Mohammad Paldeep S. Atwal 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 |
| title | Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema |
| title_full | Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema |
| title_fullStr | Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema |
| title_full_unstemmed | Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema |
| title_short | Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema |
| title_sort | whole exome sequencing and molecular modeling of a missense variant in tnfaip3 that segregates with disease in a family with chronic urticaria and angioedema |
| url | http://dx.doi.org/10.1155/2018/6968395 |
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