Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus
C. David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet et autres
UNC93B1 is a transmembrane domain protein mediating the signaling of endosomal Toll-like receptors (TLRs). We report five families harboring rare missense substitutions (I317M, G325C, L330R, R466S, and R525P) in UNC93B1 causing systemic lupus erythematosus (SLE) or chilblain lupus (CBL) as either autosomal …
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