Syndromic multisystem autoimmune disease
Definition:
References:
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[1]. Ira Surolia, et al. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature. 2010 Jul 8;466(7303):243-7. [Content Brief]
[2]. Levi B Watkin, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun;47(6):654-60. [Content Brief]
[3]. Naomi J Lohr, et al. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet. 2010 Mar 12;86(3):447-53. [Content Brief]