autoimmune disease—susceptibility to—6

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autoimmune disease—susceptibility to—62016-11-24T20:50:46+00:00

autoimmune disease—susceptibility to—6

IMMUNOLOGY

Definition A condition (OMIM:613551) characterised by susceptibility to autoimmune disorders, including juvenile rheumatoid arthritis, rheumatoid arthritis, multiple sclerosis, Sjögren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn’s disease. 

Molecular pathology Defects of SIAE, which encodes sialic acid acetylesterase, an enzyme that removes 9-O-acetylation modifications from sialic acids, cause autoimmune disease—susceptibility to—6. 

References http://www.uniprot.org/uniprot/Q9HAT2

http://www.omim.org/entry/613551 

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