APECED
Conditions
Brief summary
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
Interventions
None listed
Sponsors
Ministry of Health, France
University Hospital, Lille
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
\-
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| allelic frequency of the mutation c.967-979del13 of the AIRE gene | Baseline: one session |
Secondary
| Measure | Time frame |
|---|---|
| total number of cases recognized APECED syndrome regardless of the diagnostic criteria used. | Baseline: one session |
| correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome. | Baseline: one session |
| correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome. | Baseline: one session |
| prevalence of types of antibodies found on APECED syndrome. | Baseline: one session |
| the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome. | Baseline: one session |
| proportion of patients with a molecular diagnosis of positive APECED syndrome, among patients presenting our new diagnostic criteria (a major criterion and at least 2 criteria | Baseline: one session |
Countries
France
Outcome results
None listed