Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome
France29 participantsStarted 2009-07-30
Plain-language summary
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
Who can participate
SexALL
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Inclusion Criteria:
* patients with at least 2 major criteria out of the following 3: hypoparathyroidism of autoimmune origin, adrenal insufficiency of autoimmune origin, chronic cutaneous and mucosal candidiasis.
* patients with only 1 of the 3 major criteria, associated with at least 2 of the following minor criteria: hypergonadotropic hypogonadism of autoimmune origin, atrophic gastritis, malabsorption, autoimmune hepatitis, vitiligo, alopecia, chronic keratoconjunctivitis, hypoplasia of dental enamel.
* patients whose molecular diagnosis has been established or who will be established during the inclusion visit with the genetic sample.
Exclusion Criteria:
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What they're measuring
1
allelic frequency of the mutation c.967-979del13 of the AIRE gene