The APS Type 1 (APECED) Registry collects information from a wide variety of individuals including those with a confirmed diagnosis and those who have a suspected diagnosis. Below is a list of individuals who may participate in the registry. If you have any questions about your eligibility to participate in the registry, please contact us as firstname.lastname@example.org.
Patients of all ages with a confirmed diagnosis of APS Type 1 are eligible for inclusion in the registry. A confirmed diagnosis means that the patients has received either or both of a genetic diagnosis or a clinical diagnosis.
- Genetic Diagnosis: via identification of biallelic AIRE mutations
- Clinical Diagnosis: via presence of 2 of 3 classic manifestations:
- Chronic Mucocutaneous Candidiasis (CMC) (based on recurrent episodes of Candida infections of the mucous membranes, skin, and/or nails)
- Hypoparathyroidism (based on decreased plasma calcium, elevated plasma phosphate, and decreased or absent plasma intact parathyroid hormone)
- Addison’s Disease (adrenal insufficiency) (based on decreased plasma cortisol concentrations upon ACTH stimulation).
Patients of all ages with a suspected diagnosis of APS Type 1 are eligible for inclusion in the registry. For purposes of this registry, suspicion of an APS Type 1 diagnosis is on the basis of meeting one or more of the 3 criteria below:
- Clinical diagnosis of Hypoparathyroidism: Patient has a clinical diagnosis of hypoparathyroidism (based on decreased plasma calcium, elevated plasma phosphate, and decreased or absent plasma intact parathyroid hormone) diagnosed at any age.
- Clinical Diagnosis of Particular Disorders Before Age 20: Patient has a clinical diagnosis of any one or more of the following disease-defining characteristics first arising before the age of 20:
- Chronic Mucocutaneous Candidiasis (CMC)
- Addison’s Disease (adrenal insufficiency)
- Enamel Hypoplasia (tooth enamel dystrophy or nail dysplasia)
- Pneumonitis (lung inflammation)
- Autoimmune Hepatitis (liver inflammation)
- Keratoconjunctivitis (eye inflammation)
- Severe Fat Malabsorption
- First-Degree Family Member Has Confirmed APS Type 1 Diagnosis: Patient has a first-degree family member (e.g., parent, child, or sibling) with a confirmed diagnosis of APS Type 1.