Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
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DOI: 10.1016/j.jaut.2017.10.010
Abstract: A genetic variant in the SAND domain of autoimmune regulator (AIRE), R247C, was identified in a patient with type I diabetes mellitus (T1DM) and his mother with rheumatoid arthritis. In vitro, the variant dominantly inhibited AIRE;… read more here.
Keywords: sand domain; variant; aire; domain autoimmune ... See more keywords