Approach to the patient with APS-1/APECED
Taura Webb1, Joseph Pechacek1, Michail S Lionakis1
1Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
The Journal of Clinical Endocrinology and Metabolism
|July 16, 2026
Summary
Autoimmune polyendocrine syndrome type 1 (APS-1) is a genetic disorder affecting immune tolerance. Early diagnosis and recognizing non-endocrine symptoms are crucial for managing this condition and exploring new treatments like JAK inhibition.
Area of Science:
- Immunology
- Genetics
- Endocrinology
Background:
- Autoimmune polyendocrine syndrome type 1 (APS-1), or APECED, is a monogenic disorder caused by AIRE gene variants, leading to immune tolerance defects.
- Common manifestations include hypoparathyroidism and adrenal insufficiency, but non-endocrine symptoms often precede these, complicating diagnosis.
- Endocrinologists play a key role in early identification and ongoing management of APS-1 patients.
Purpose of the Study:
- To present five cases illustrating the diverse clinical spectrum of APS-1.
- To highlight novel genetic findings and diagnostic challenges in APS-1.
- To discuss emerging therapeutic strategies for APS-1.
Main Methods:
- Case series presentation.
- Analysis of clinical data and genetic testing results.
- Review of mechanistic insights and therapeutic approaches.
Main Results:
- The cases demonstrate an expanded clinical spectrum of APS-1, including early non-endocrine features.
- Diagnostic challenges were identified, emphasizing the need for expanded criteria and consideration of complex AIRE variants.
- APS-1 is increasingly understood as an IFN-γ-driven disease, supporting targeted therapies like JAK inhibitors.
Conclusions:
- Early recognition of APS-1, including non-endocrine signs, is vital for timely diagnosis and management.
- Limitations in standard genetic testing necessitate broader diagnostic approaches for AIRE variants.
- Targeted immunomodulatory therapies, such as JAK inhibition, show promise for treating APS-1.
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