Autoimmune polyendocrine syndrome type 1

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Autoimmune polyendocrine syndrome type 1
Other namesAutoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED),

Autoimmune polyglandular syndrome type 1, Whitaker syndrome,

antifungals, immunosuppression

Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of

chromosome 21 and normally confers immune tolerance.[1][2][3]

Signs and symptoms

APS-1 tends to cause severe symptoms.[4] These are present from early in life, usually around 3.5 years of age.[4] Common symptoms of APS-1 include:

APS-1 may also cause:

Cause

Chromosome 21

APS-1 is caused by a mutation in the

autosomal recessive manner.[8]

Different mutations are more common in different geographic regions. R139X is a common mutation in Sardinia.[4] R257* is a common mutation in Finland.[5] Both of these mutations are nonsense mutations: the asterisk and the "X" both indicate a stop codon.[7] A 13-base-pair deletion in the AIRE gene, c.967-979del13bp, has been identified in APS-1 patients in Norway, Britain[8] and North America.[9][10]

Pathophysiology

APS-1 is due to problems with

interferon alpha.[4][12] There may also be a reaction against interleukin 22.[4] This leads to damage to endocrine organs.[4] Common problems include hypercalcaemia and nephrocalcinosis (due to a lack of calcitonin from the thyroid), and pituitary problems (such as growth hormone deficiency).[4] Antibodies against NLRP5 may lead to hypoparathyroidism.[citation needed
]

Diagnosis

Endoscope

Diagnosis of APS-1 is based on a number of tests, including

endocrine
autoantibody screening.

Treatment

Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual. Treatments may involve hormone therapy,[13] systemic antifungal treatments,[4][13] and immunosuppression.[13]

History

APS-1 may also be known as autoimmunity endocrinopathy candidiasis ectodermal dystrophy / dysplasia (APECED),[citation needed] autoimmune polyglandular syndrome type 1,[citation needed] Whitaker syndrome,[12] or candidiasis-hypoparathyroidism-Addison's disease syndrome.[14]

See also

References

  1. ^ a b "AIRE gene". Genetics Home Reference. Retrieved 2017-04-04.
  2. ^ a b "APECED". Retrieved 2017-04-04.
  3. .
  4. ^ .
  5. ^ .
  6. ^ "Autoimmune Polyglandular Syndrome Type 1 (APS-1)". NIH: National Institute of Allergy and Infectious Diseases. Retrieved 2017-04-16.
  7. ^ a b D.N. Cooper; E.V. Ball; P.D. Stenson; A.D. Phillips; K. Evans; S. Heywood; M.J. Hayden; M.M. Chapman; M.E Mort; L. Azevedo; D.S. Millar (eds.). "AIRE". The Human Gene Mutation Database. Institute of Medical Genetics in Cardiff. Retrieved 22 August 2023.
  8. ^
    PMID 9837820
    .
  9. .
  10. . 948350.
  11. .
  12. ^ a b c d Aldasouqi, Saleh A. (15 November 2016). "Type I Polyglandular Autoimmune Syndrome". emedicine.medscape.com. Medscape. Archived from the original on 2008-12-09. Retrieved 20 November 2020.
  13. ^ a b c INSERM RESERVED. "Orphanet: Autoimmune polyendocrinopathy type 1". www.orpha.net. Retrieved 2017-04-22.
  14. .

Further reading

External links