Review Article
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
Table 2
New diagnostic criteria for the diagnosis of APECED as reported by Husebye et al. [
17].
| One of the following three criteria is necessary for a definitive diagnosis: | (i) presence of at least two of the three major components: chronic mucocutaneous candidiasis, hypoparathyroidism, or adrenal | Insufficiency | (ii) only one major component if a sibling is affected by APECED | (iii) disease-causing mutations in both AIRE genes
| One of the following three criteria suggests a probable diagnosis: | (i) presence of one of the three major components (before 30 years of age) and at least one of the minor components | (ii) any component in the presence of anti-interferon antibodies | (iii) any component in the presence of antibodies against NALP5, AADC, TPH, or TH |
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AIRE: autoimmune regulator, NALP5: NACHT leucine-rich repeat protein 5, AADC: aromatic L-mino acid decarboxylase, TPH: tryptophan hydroxylase, TH: tyrosine hydroxylase.
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