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PRKDC mutations prevent AIRE-dependent IGFL-1 expression. A, RT-PCR analysis of 5 transcripts after AIRE transfection in control fibroblasts. B, AIRE-dependent IGFL-1 expression in Pt1 and Pt2 or in the previously reported PRKDC mutant with SCID (Pt3). C and D, Detection of anti-CaSR autoantibodies in positive and negative control sera and Pt1’s serum. E, Autoimmune markers in Pt1 before and after BMT.
