Autoimmune polyendocrine syndrome

Types

• Autoimmune polyendocrine syndrome type 1, an autosomal recessive syndrome due to mutation of the AIRE gene resulting in hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, candidiasis and others.
• Autoimmune polyendocrine syndrome type 2, an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes.
• Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might experience mild disease.

Cause

Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an X-linked recessive process. The FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of the IPEX condition.

Diagnosis

Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:

• Endoscopic
• CT scan
• Histologic test

Differential diagnosis

For this condition, differential diagnosis sees that the following should be considered:

• CD25 deficiency
• STAT5B deficiency
• Severe combined immunodeficiency
• X linked thrombocytopenia

Management

Immunosuppressive therapy may be used in type I of this condition.

Ketoconazole can also be used for type I under certain conditions.

References

References

1. (2003). "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up". The Journal of Clinical Endocrinology & Metabolism.
2. (2004). "Autoimmune polyendocrine syndromes". [[New England Journal of Medicine.
3. (29 June 2022). "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Etiology".
4. (8 December 2023). "Type II Polyglandular Autoimmune Syndrome: Practice Essentials, Pathophysiology, Etiology".
5. (29 June 2022). "Type I Polyglandular Autoimmune Syndrome: Practice Essentials, Background, Pathophysiology".
6. "Autoimmune polyglandular syndrome type 2 {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
7. "Immunodysregulation, polyendocrinopathy and enteropathy X-linked {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
8. (1 August 2002). "Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome". Journal of Medical Genetics.
9. Reference, Genetics Home. "IPEX syndrome".
10. Reference, Genetics Home. "FOXP3 gene".
11. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome".
12. (2012-02-01). "Autoimmune polyendocrine syndrome type 1: case report and review of literature". Arquivos Brasileiros de Endocrinologia & Metabologia.