Autoimmune polyendocrine syndrome

Autoimmune polyendocrine syndrome
Other namesAutoimmune polyglandular syndromes (APSs)
The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional)
SpecialtyEndocrinology Edit this on Wikidata
TypesAPS type1,
APS type 2,
IPEX syndrome
CausesFOXP3 gene is involved in the mechanism [1]
Diagnostic methodEndoscopic, CT scan[2]
TreatmentDepends on type

Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs)[3] or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group[4] of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. There are three types of APS, and there are a number of other diseases which involve endocrine autoimmunity.[2][5][6]

  1. ^ Cite error: The named reference fo was invoked but never defined (see the help page).
  2. ^ a b Cite error: The named reference emed was invoked but never defined (see the help page).
  3. ^ Dittmar, Manuela; Kahaly, George J. (2003). "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up". The Journal of Clinical Endocrinology & Metabolism. 88 (7): 2983–2992. doi:10.1210/jc.2002-021845. PMID 12843130.
  4. ^ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
  5. ^ "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Etiology". MEDSCAPE. 29 June 2022. Retrieved 28 April 2024.
  6. ^ "Type II Polyglandular Autoimmune Syndrome: Practice Essentials, Pathophysiology, Etiology". Medscape. 8 December 2023. Retrieved 28 April 2024.