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 2
TECs in thymus from an Omenn syndrome patient. (A and B) Double fluorescence staining in thymus sections obtained from a control subject (A) and an Omenn syndrome patient (B). (A) In normal thymus, TECs were regularly distributed; a fraction of them showed large and irregular morphology and expressed AIRE. Insets represent high magnification of the corresponding rectangular area. (B) Conversely, thymus sections from an Omenn syndrome patient (Pt1) revealed a dense framework of keratin⁺ TECs, which did not react with anti-AIRE. Double-immunofluorescence analysis was performed with anti-AIRE (green in A and B) and anti-keratin (red in A and B). Magnifications: ×100 (B), ×200 (A), ×1,000 (A, insets). (C) Real-time PCR analysis of cDNA prepared from RNA isolated from whole thymus of 2 control subjects and 2 Omenn syndrome patients (Pt1 and Pt2). The levels of keratin-13 mRNA were calculated as fold increase over those in the control and are expressed as average of triplicates ± SE. For each experiment, levels of keratin were normalized to levels of GAPDH mRNA. Data are representative of 1 of 4 experiments.