[A woman in her thirties with frequent mucosal ulcers].

Abstract excerpt

BACKGROUND: Haploinsuffiency A20 (HA20) was first described in 2016 and is caused by a mutation in TNFAIP3/A20. Non-related families living on different continents were examined with whole exome sequencing (WES). All had symptoms of Behçet's disease. An autosomal dominant mutation was found. CASE PRESENTATION: When in her early teens, the patient had presented with a painful labial ulcer. She also had recurrent...

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