Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 (APECED2)

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinomas (SCCs) and may lead to death. The role of chronic Candida infection in the etiopathogenesis of oral SCC is unclear. Long term use of fluconazole lead to emergence of C. albicans strains with azoles decreased susceptibility. CMC is associated with an impaired Th17 cell response, however, it remains unclear whether decreased serum IL-17 and IL-22 levels are related to a defect in cytokine production or to neutralizing autoantibodies resulting from mutations in the AIRE gene

Study Overview

• Status: Terminated
• Conditions: Polyendocrinopathies, Autoimmune

• Study Type: Observational
• Enrollment (Actual): 7

Contacts and Locations

Study Locations

• France
  • Lille, France, 59037
    • Hop Claude Huriez Chu Lille

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 85 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients will be included during their routine follow-up for adrenal insufficiency or hypoparathyroidism in the endocrinology department of the University Hospital of Lille, in adult or pediatric endocrinology.

Description

Inclusion Criteria:

1. For both of groups, inclusion criteria are :

   • children aged 0 to 17 years old with the consent of both parents, and men and women between the ages of 18 and 85.
   • a reasonable delay of 2 weeks after the resolution of an intercurrent infectious episode is to be observed.
   • assent of the patient after information adapted to his age and his degree of understanding.
   • informed, express and written consent of the patient or of each of the holders of parental authority.
2. Inclusion criteria specific to group 1: Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment.
3. Inclusion criteria specific to group 2 : Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected.

Exclusion Criteria:

• impossibility to receive informed information for adults, or impossibility to receive enlightened information for the holders of parental authority if minor subject
• inability to participate in the entire study, refusal to sign the consent.
• people in an emergency situation.
• persons deprived of their liberty.
• pregnant or lactating woman (pregnant women will be offered to participate in the study after delivery).

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Group 1 APS 1; Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment.
Group 2 APS2; Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
the frequency of appearance of Candida yeast strains	the frequency of appearance of Candida yeast strains found in mycological samples from both urinary and oral patients.	Baseline: one session

Collaborators and Investigators

• Sponsor: University Hospital, Lille
• Investigators: Principal Investigator: Marie-Christine VANTYGHEM, MD,PhD, University Hospital, Lille

Study record dates

Study Major Dates

• Study Start (Actual): April 23, 2021
• Primary Completion (Actual): August 23, 2022
• Study Completion (Actual): August 23, 2022

Study Registration Dates

• First Submitted: January 8, 2019
• First Submitted That Met QC Criteria: January 8, 2019
• First Posted (Actual): January 10, 2019

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 20, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: APECED syndrome; autoimmune polyendocrinopathy; chronic mucocutaneous candidiasis
• Additional Relevant MeSH Terms: Endocrine System Diseases; Pathologic Processes; Chronic Disease; Disease Attributes; Autoimmune Diseases; Immune System Diseases; Infections; Skin Diseases; Bacterial Infections and Mycoses; Skin Diseases, Infectious; Mycoses; Dermatomycoses; Candidiasis; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Candidiasis, Chronic Mucocutaneous; Polyendocrinopathies, Autoimmune
• Other Study ID Numbers: 2017_36; 2017-A03135-48 (Other Identifier: ID-RCB number, ANSM)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No