Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome

University Hospital, Lille

Status: Completed

Conditions: APECED

Study type: Observational

Funder types: Other

Identifiers

NCT03751683

2009-A00197-50 (Other Identifier)

2008_30/0915

Details and patient eligibility

About

The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated

Enrollment: 29 patients

Sex: All

Volunteers: No Healthy Volunteers

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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