AIRE deficiency in thymus of 2 patients with Omenn syndrome
J. Clin. Invest. Patrizia Cavadini, et al. 115:728 doi:10.1172/JCI23087 [Go to this article.]

Figure 1
AIRE expression in thymi from Omenn syndrome and SCID patients. (A) Real-time PCR analysis of cDNA prepared from RNA isolated from normal thymi and from thymi of Omenn syndrome patients (Pt1 and Pt2) and 1 SCID patient (Pt3). The levels of AIRE mRNA were calculated as a percentage of those in normal thymus from control subject 1 and are expressed as average of triplicates ± SE. Data are representative of 1 of 5 experiments. *P < 0.05 compared with controls. (B–G) AIRE protein was detectable in AIRE-transfected cells (C) with the typical cytoplasmic microtubular pattern and multiple nuclear dots (C, inset), but not in mock-transfected cells (B). In normal thymus, a clear corticomedullary differentiation with numerous thymocytes was identified (D). AIRE protein was predominantly expressed in the medulla (TM), whereas only scattered positive cells with large and irregular morphology (D, inset) were found in the cortex (TC). A high magnification of the thymic medulla illustrates cytoplasmic and nuclear expression of AIRE by numerous large irregular cells (E). Thymus sections from a SCID patient (F) and an Omenn syndrome patient (G) showed lymphoid depletion along with loss of corticomedullary differentiation and lack of AIRE protein expression (F and G, and insets). AIRE protein was detected by immunofluorescence (green fluorescence in B and C) and by immunoperoxidase technique and counterstaining with Mayer’s hematoxylin (D–G). Magnifications: ×100 (D, F, and G); ×200 (D, F, and G, insets); ×400 (B, C, and E); ×1,000 (C, inset).