Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.

Naomi TsuchidaYohei KirinoYutaro SoejimaMasafumi OnoderaKatsuhiro AraiEiichiro TamuraTakashi IshikawaToshinao KawaiToru UchiyamaShigeru NomuraDaisuke KobayashiMasataka TaguriSatomi MitsuhashiTakeshi MizuguchiAtsushi TakataNoriko MiyakeHideaki NakajimaSatoko MiyatakeNaomichi Matsumoto

Published in: Arthritis research & therapy (2019)

We identified a novel nonsense variant and deletion of the entire TNFAIP3 gene in two unrelated Japanese HA20 families. Genetic screening of TNFAIP3 should be considered for familial BD-like patients with early-onset recurrent fevers.

Keyphrases

early onset
late onset
genome wide
copy number
dna methylation
gene expression
genome wide identification