Article
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
Nature - 8 Jul 2010
Surolia Ira, Pirnie Stephan P, Chellappa Vasant, Taylor Kendra N, Cariappa Annaiah, Moya Jesse, Liu Haoyuan, Bell Daphne W, Driscoll David R, Diederichs Sven, Haider Khaleda, Netravali Ilka, Le Sheila, Elia Roberto, Dow Ethan, Lee Annette, Freudenberg Jan, De Jager Philip L, Chretien Yves, Varki Ajit, MacDonald Marcy E, Gillis Tammy, Behrens Timothy W, Bloch Donald, Collier Deborah, Korzenik Joshua, Podolsky Daniel K, Hafler David, Murali Mandakolathur, Sands Bruce, Stone John H, Gregersen Peter K, Pillai Shiv
Abstract excerpt
Sialic acid acetylesterase (SIAE) is an enzyme that negatively regulates B lymphocyte antigen receptor signalling and is required for the maintenance of immunological tolerance in mice. Heterozygous loss-of-function germline rare variants and a homozygous defective polymorphic variant of SIAE were identified in 24/923 subjects of European origin with relatively common autoimmune disorders and in 2/648 controls of...
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