The APS Type 1 (APECED) community is very fortunate to collaborate with the National Institutes of Health (NIH) in Bethesda, Maryland. Since 2012, Dr. Lionakis and his dedicated team of clinicians and researchers have seen more 170 APS Type 1 patients from more than 11 states and 22 countries. 

This natural history study, which has enrolled the largest cohort of APS Type 1 patients in the world, has been invaluable to our community in countless ways:

  • Further characterizing disease progression
  • Shortening time to diagnosis
  • Developing new therapeutic approaches
  • Collaborating with patients’ local doctors and caregivers
The NIH’s Elise Ferré with Dr. Mukil Natarajan from the FDA at our 2019 Symposium.
L-R: Dr. Mihalis Lionakis (NIH), Dr. Dana Orange (Rockefeller), Jennifer Orange (Board Member), Dr. Gregory Constantine (NIH), Dr. Mukil Natarajan (FDA)


Because of the incredible participation from our patients and families and the commitment and dedication of Dr. Lionakis and his team, the NIH Natural History Study has resulted in several important publications and developments in the diagnosis and treatment of APS Type 1. 

Name of Protocol

The Natural History, Immunologic Correlates and Genetic Defects in Patients With Mucocutaneous and Invasive Fungal Infections


National Institute of Allergy and Infectious Diseases (NIAID)

Primary Investigator

Michail S. Lionakis, M.D.

Protocol Details

Clinical Trials Number


Enrollment & Eligibility

For enrollment and eligibility information, please contact:

Tom DiMaggio, R.N., Senior Research Nurse
Specialist Study Coordinator NIH/NIAID/LA
10 Center Drive, Room  11C-207
Bethesda, MD 20892
Phone: 301-443-8341
Fax: 301-480-3783

Joseph Pechacek, MD MS 
Phone: (301) 761-6858

Taura Webb, CRNP  
Phone: (301) 496-8985 

Michail S Lionakis, M.D.
Phone: (301) 443-5089       

Patients & Caregivers

For questions about the patient and caregiver experience, please contact us.

Other NIH Studies

For information about other NIH studies, please visit