A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

Tarih
2018
Yazar
Gül, Ahmet
Batu, Ezgi D.
CANNA, Scott W.
GO, Ellen
HOFFMANN, Patrycja
Leavis, Helen L.
ÖZEN, SEZA
SCHWARTZ, Daniella M.
STONE, Deborah L.
van Royen-Kerkof, Annet
KASTNER, Daniel L.
AKSENTIJEVICH, Ivona
Laxer, Ronald M.
Aeschlimann, Florence A.
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Özet
Objectives The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20).
Bağlantı
http://hdl.handle.net/20.500.12627/78476
https://doi.org/10.1136/annrheumdis-2017-212403
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