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].

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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.