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2018 ; 2018
(ä): 6968395
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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
#MMPMID29682366
Harris AL
; Blackburn PR
; Richter JE Jr
; Gass JM
; Caulfield TR
; Mohammad AN
; Atwal PS
Case Rep Genet
2018[]; 2018
(ä): 6968395
PMID29682366
show ga
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.