Autoimmune endocrine disease: HLA, genetics and polyglandular syndromes
Why endocrine glands are common autoimmune targets, the HLA and single-gene drivers (AIRE, FOXP3, CTLA-4), staging of type 1 diabetes by autoantibodies, the polyglandular syndromes and checkpoint inhibitor endocrinopathies.
Tier 2Medical sciences concept
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Endocrine autoimmunity is organ specific and mostly T cell driven. The autoantibodies (anti-GAD, anti-TPO, anti-21-hydroxylase) are markers; only a few (TSH receptor antibodies) cause disease directly.
- The largest genetic effect comes from HLA class II (DR3-DQ2, DR4-DQ8). Smaller effects come from genes that tune T cell signalling: CTLA4, PTPN22, IL2RA and the insulin gene VNTR.
- Single-gene failures of tolerance give the clearest lessons: AIRE (APS-1, central tolerance) and FOXP3 (IPEX, regulatory T cells).
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Sources
- Tumors metastatic to the pituitary gland: case report and literature reviewJ Clin Endocrinol Metab 2004;89:574-80 (Komninos J et al.), 2004
- Therapeutic Guidelines: DiabetesAU/NZTherapeutic Guidelines Limited
- AusPAR: Tzield (teplizumab)AU/NZTherapeutic Goods Administration, 2026
- Public Summary Document and medicine status: teplizumab (Tzield), July 2026 PBAC meetingAU/NZPharmaceutical Benefits Scheme, 2026
- Staging presymptomatic type 1 diabetes: a scientific statement of JDRF, the Endocrine Society, and the American Diabetes AssociationDiabetes Care 2015;38:1964-74 (Insel RA et al.), 2015
- An anti-CD3 antibody, teplizumab, in relatives at risk for type 1 diabetes (TN-10)N Engl J Med 2019;381:603-13 (Herold KC et al.), 2019
- Autoimmune polyendocrine syndromesN Engl J Med 2018;378:1132-41 (Husebye ES, Anderson MS, Kämpe O), 2018
- Williams Textbook of Endocrinology (15th ed.)Elsevier, 2024
- Last updated
- 14 November 2026
What changed
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