2018
DOI: 10.1016/j.autrev.2018.02.012
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Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

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Cited by 67 publications
(70 citation statements)
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“…This newly identified autoinflammatory disease is characterized by recurrent oral (87%) and genital (67%) ulcers, arthralgia or arthritis (42%), and skin involvement (53%), such as erythema nodosum or abdominal symptoms (60%). 12 In the present case, the c.547C>T (p.R183*) variant in exon 4 of the nine total exons of the TNFAIP3 gene (NM_001270508) is in an OTU domain, similar to most previously reported cases of AISBL. 12 The variant was predicted to be disease-causing by Mutation Taster, leading to a truncated protein and a haploinsufficiency A20.…”
Section: Discussionsupporting
confidence: 82%
See 3 more Smart Citations
“…This newly identified autoinflammatory disease is characterized by recurrent oral (87%) and genital (67%) ulcers, arthralgia or arthritis (42%), and skin involvement (53%), such as erythema nodosum or abdominal symptoms (60%). 12 In the present case, the c.547C>T (p.R183*) variant in exon 4 of the nine total exons of the TNFAIP3 gene (NM_001270508) is in an OTU domain, similar to most previously reported cases of AISBL. 12 The variant was predicted to be disease-causing by Mutation Taster, leading to a truncated protein and a haploinsufficiency A20.…”
Section: Discussionsupporting
confidence: 82%
“…12 In the present case, the c.547C>T (p.R183*) variant in exon 4 of the nine total exons of the TNFAIP3 gene (NM_001270508) is in an OTU domain, similar to most previously reported cases of AISBL. 12 The variant was predicted to be disease-causing by Mutation Taster, leading to a truncated protein and a haploinsufficiency A20.…”
Section: Discussionsupporting
confidence: 82%
See 2 more Smart Citations
“…The TNFAIP3 gene encodes a zinc finger protein and ubiquitin-editing enzyme, and variants in TNFAIP3 have been associated with autoinflammatory syndrome (OMIM #616744) characterized by hemolytic anemia, thrombocytopenia, autoinflammation, and autoimmune lymphoproliferative syndrome, the latter presenting with lymphadenopathy and hepatosplenomegaly (23). The variant harbored by P10 has not been described previously, and we have not been able to verify whether the variant is de novo or inherited; however a p.A332X mutation has been reported in autosomal dominant familial Behçet disease and haploinsufficiency of A20 (35). The variant in P10 is located in the ovarian tumor (OUT) domain as described for p.A332X, resulting in a severely truncated and rapidly degraded protein (35).…”
Section: Identified Variantsmentioning
confidence: 81%