The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
Study Type
OBSERVATIONAL
Enrollment
29
CHRU, Hôpital Claude Huriez
Lille, France
allelic frequency of the mutation c.967-979del13 of the AIRE gene
Time frame: Baseline: one session
total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.
Time frame: Baseline: one session
correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.
Time frame: Baseline: one session
correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.
Time frame: Baseline: one session
prevalence of types of antibodies found on APECED syndrome.
Time frame: Baseline: one session
the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.
Time frame: 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
Time frame: Baseline: one session
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.