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| ID | Type | Description | Link |
|---|---|---|---|
| 2009-A00197-50 | Other Identifier | ID-RCB number, ANSM |
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| Name | Class |
|---|---|
| Ministry of Health, France | OTHER_GOV |
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The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
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| Measure | Description | Time Frame |
|---|---|---|
| allelic frequency of the mutation c.967-979del13 of the AIRE gene | Baseline: one session |
| Measure | Description | 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 |
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Inclusion Criteria:
Exclusion Criteria:
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A patient diagnosed or suspected of a genetic disorder of immunity control, known as APECED syndrome (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) or autoimmune polyendocrinopathy type 1,
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| Name | Affiliation | Role |
|---|---|---|
| Emmanuelle Proust-Lemoine, MD | University Hospital, Lille | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHRU, Hôpital Claude Huriez | Lille | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 38605470 | Result | Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wemeau JL, Vantyghem MC. Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort. J Clin Endocrinol Metab. 2025 Feb 18;110(3):e757-e773. doi: 10.1210/clinem/dgae211. |
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| ID | Term |
|---|---|
| D016884 | Polyendocrinopathies, Autoimmune |
| ID | Term |
|---|---|
| D004700 | Endocrine System Diseases |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
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| 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 |