Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autoimmune polyglandular syndrome-1 (APS-1) is an autosomal recessive primary immunodeficiency caused by mutations in autoimmune regulator (AIRE), a thymic transcription factor that plays a critical role in central immune tolerance. APECED is seen worldwide, with a higher prevalence (1:14,000-1:90,000) in certain parts of the world such as Sardinia, Finland and Norway. Very few patients had been reported from North America so far.

APECED patients develop multisystem autoimmune manifestations of endocrine and non-endocrine organs, and exhibit universal and specific susceptibility to a single infectious disease, chronic mucocutaneous candidiasis (CMC). Indeed, the three major conditions that arise in >80% of APECED patients are hypoparathyroidism, adrenal insufficiency, and CMC; two of these manifestations are necessary for establishing a clinical diagnosis. Beyond the classic triad, other autoimmune manifestations that occur with varying frequencies (~10-70%) include hepatitis, pneumonitis, enteritis-induced malabsorption, nephritis, chronic atrophic gastritis, alopecia areata, hypogonadism, hypothyroidism, and insulin-dependent diabetes.

Dr. Michail Lionakis from the National Institutes of Health has developed an Institutional Review Board (IRB)- approved clinical research protocol.  Since mid-2013, we have helped to enroll a rapidly growing cohort of more than 70 APECED patients. Bench-to-bedside translational research is essential to improve our understanding of APECED and to devise an effective treatment plan.

We have developed an Institutional Review Board (IRB)-approved clinical research protocol at NIH and since mid-2013 we have enrolled a rapidly growing cohort of > 100 APECED patients. The patients are admitted at the NIH Clinical Center, a state-of-the-art clinical research hospital in Bethesda, Maryland (, and undergo a comprehensive clinical and research evaluation that aims at (1) accurately diagnosing all APECED clinical manifestations of a given patient, (2) devising an individualized plan for treatment, and (3) improving our understanding of the condition through thorough clinical and research studies. The same multidisciplinary team of physicians and physician-scientists led by Dr. Lionakis sees all patients. In parallel, we perform research studies in Aire-/- mice, which develop spontaneous autoimmune manifestations and mucosal candidiasis similar to what is seen in APECED patients to gain important insight into the underlying mechanisms of disease susceptibility.

This integrated clinical and research approach aims at delivering superb clinical care to patients and at developing knowledge that will lead to novel targeted therapeutic interventions in APECED for both the infectious and autoimmune manifestations of the syndrome.

Contact information for enrollment at the APECED NIH study:

Elise Ferré, PA-C, MPH
Fungal Pathogenesis Unit (FPU)
Laboratory of Clinical Infectious Diseases (LCID)
9000 Rockville Pike, Building 10, Room 11C114
Bethesda, Maryland, 20892
Office: 301 496 8985
Fax: 301 480-3759 (preferred)

Michail Lionakis, MD, ScD
Chief, FPU, LCID
9000 Rockville Pike, Building 10, Room 11C102
Bethesda, Maryland, 20892
Office: 301 443 5089
Fax:  301-480-3759 (preferred)
Lab website


Request for Proposals

National Organization for Rare Disorders (NORD), with The APS Type 1 Foundation Inc. Announces Research Seed Money Grant (up to $100,000) for Autoimmune Polyglandular Syndrome Type 1 (APS Type 1) also known as Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Abstract Submission Deadline: October 21, 2016.


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