Who Can Participate in the Registry?

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 registry@apstype1.org.

CONFIRMED DIAGNOSIS

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.

1. Genetic Diagnosis: via identification of biallelic AIRE mutations
2. 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).

SUSPECTED DIAGNOSIS

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:

1. 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.
2. 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
3. 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.