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Review
. 2004 Mar;135(3):348-57.
doi: 10.1111/j.1365-2249.2004.02384.x.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity

P Peterson  1 , J Pitkänen, N Sillanpää, K Krohn
Affiliations
Review

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity

P Peterson et al. Clin Exp Immunol. 2004 Mar.
No abstract available

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Figures

Fig. 1
Fig. 1
Schematic of the AIRE protein showing the functional protein domains, and the distribution of the APECED-causing mutations for which functional and/or localization data is available (see also Table 3). HSR: homogenously staining region; SAND: Sp100, AIRE, NucP41/75 and DEAF-1; PHD: plant homeodomain zinc finger; PRR, proline rich region; L, LXXLL nuclear receptor interaction motif.
Fig. 2
Fig. 2
Subcellular localization of the AIRE protein, as illustrated by immunofluorescence staining of AIRE-expressing cells with a monoclonal anti-AIRE antibody. Three typical staining patterns are demonstrated. (a) in this cell AIRE is seen both in the cytoplasm and nucleus. (b) AIRE is seen only in the nucleus, as a diffuse staining, and in nuclear dots. (c) AIRE is seen only in the cytoplasm in typical filaments.
Fig. 3
Fig. 3
AIRE expression is controlled by the lymphotoxin pathway. The classical (a) and alternative (b) paths of activation through the lymphotoxin beta receptor are shown. LTα and LTβ: lymphotoxin alpha and beta, respectively; LTβR, lymphotoxin beta receptor; IKK alpha and beta, I kappa B kinase alpha and beta, respectively. Adapted from Derudder et al., Muller et al. and Mordmuller et al. [–94].
Fig. 4
Fig. 4
AIRE and negative selection in the thymus. One of the APECED autoantigens, P450c21, is used as an example. Under normal circumstances (upper portion), AIRE drives the expression of autoantigens in thymic medullary epithelial cells (MECs), resulting finally in the negative selection of T cells reactive to these autoantigens. In APECED, with dysfunctional AIRE, the autoreactive T cells escape selection with the inevitable consequence of autoimmune attack against the target organs expressing the autoantigens.
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