Fig. 3

Expression levels of AIRE gene mRNA: PE-002 column belongs to the case with homozygous mutation in intron 9 (c.1095 + 2 T > A); PE-001 and PE-005 represent the expression levels in patient’s parents with heterozygous mutation in intron 9 (c.1095 + 2 T > A); other columns show the expression level of AIRE in siblings (mutations were not checked)