Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

Ira Surolia, Stephan P. Pirnie, Vasant Chellappa, Kendra N. Taylor, Annaiah Cariappa, Jesse Moya, Haoyuan Liu, Daphne W. Bell, David R. Driscoll, Sven Diederichs, Khaleda Haider, Ilka Netravali, Sheila Le, Roberto Elia, Ethan Dow, Annette Lee, Jan Freudenberg, Philip L. De Jager, Yves Chretien, Ajit Varki, Marcy E. MacDonald, Tammy Gillis, Timothy W. Behrens, Donald Bloch, Deborah Collier, Joshua Korzenik, Daniel K. Podolsky, David Hafler, Mandakolathur Murali, Bruce Sands, John H. Stone, Peter K. Gregersen and Shiv Pillai ()
Additional contact information
Ira Surolia: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Stephan P. Pirnie: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Vasant Chellappa: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Kendra N. Taylor: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Annaiah Cariappa: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Jesse Moya: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Haoyuan Liu: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Daphne W. Bell: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
David R. Driscoll: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Sven Diederichs: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Khaleda Haider: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Ilka Netravali: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Sheila Le: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Roberto Elia: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Ethan Dow: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Annette Lee: Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, New York 11030, USA
Jan Freudenberg: Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, New York 11030, USA
Philip L. De Jager: Center for Neurologic Diseases, Brigham & Women’s Hospital and Partners Center for Personalized Genetic Medicine, Boston, Massachusetts 02115, USA
Yves Chretien: Harvard University, Cambridge, Massachusetts 02138, USA
Ajit Varki: University of California, San Diego, La Jolla, California 92093, USA
Marcy E. MacDonald: Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Tammy Gillis: Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Timothy W. Behrens: Genentech Inc., South San Francisco, California 94080, USA
Donald Bloch: Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Deborah Collier: Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Joshua Korzenik: Gastrointestinal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Daniel K. Podolsky: Gastrointestinal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
David Hafler: Center for Neurologic Diseases, Brigham & Women’s Hospital and Partners Center for Personalized Genetic Medicine, Boston, Massachusetts 02115, USA
Mandakolathur Murali: Clinical Immunology Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Bruce Sands: Gastrointestinal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
John H. Stone: Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Peter K. Gregersen: Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, New York 11030, USA
Shiv Pillai: Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA

Nature, 2010, vol. 466, issue 7303, 243-247

Abstract: Esterase defect causes autoimmunity The enzyme sialic acid acetylesterase (SIAE) is involved in B-cell activation and is required for the maintenance of immunological tolerance in mice. A sequencing study shows that rare, inherited and functionally defective variants in the SIAE gene associate with a variety of autoimmune diseases in humans. The study provides one of the first examples of the importance of rare variants in complex diseases such as those involving autoimmunity.

Date: 2010
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DOI: 10.1038/nature09115

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