IPEX syndrome

IPEX syndrome
IPEX syndrome is inherited via X-linked recessive
Specialty Immunology Edit this on Wikidata
Causes FOXP3 gene mutation[1]
Diagnostic method Family history, Genetic test[1]
Treatment TPN(nutritional purpose), Cyclosporin A and FK506, Bone marrow transplant[2][3]

IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage.[4][5] It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity.[6] The disorder manifests with autoimmune enteropathy, psoriasiform or eczematous dermatitis, nail dystrophy, autoimmune endocrinopathies, and autoimmune skin conditions such as alopecia universalis and bullous pemphigoid.[6][7] Management for immunodysregulation polyendocrinopathy enteropathy X-linked syndrome has seen limited success in treating the syndrome by bone marrow transplantation.[8]

Symptoms and signs

Eczema

Some of the symptoms and signs of IPEX syndrome are the following:[7]

Genetics

Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is inherited in males via an x-linked recessive manner. Apparently the FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of this condition.[4][5]

Mechanism

This autoimmunity called IPEX is an attack from the body's own immune system against the body's own tissues and organs.[3] Early age onset of this disease in males causes severe enlargement of the secondary lymphoid organs, and insulin dependent diabetes

This condition indicates the loss of CD4+CD25+ T regulatory cells, and express the transcription factor Foxp3. Foxp3 decrease is a consequence of unchecked T cell activation, which is secondary to loss of regulatory T cells.[9]

Diagnosis

The diagnosis of immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is consistent with the following criteria:[1]

Treatment

FK506(Tacrolimus)

In terms of treatment the following are done to manage the IPEX syndrome in those affected individuals (corticosteroids are the first treatment that is used):[3][2]

See also

References

  1. 1 2 3 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome". www.orpha.net. Retrieved 2017-04-18.
  2. 1 2 Eisenbarth, George S. (2010-12-13). Immunoendocrinology: Scientific and Clinical Aspects. Springer Science & Business Media. pp. 129–138. ISBN 9781603274784.
  3. 1 2 3 Hannibal, Mark C.; Torgerson, Troy (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C., eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. PMID 20301297. update 2011
  4. 1 2 Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Retrieved 2017-04-16.
  5. 1 2 Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Retrieved 2017-04-16.
  6. 1 2 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 72. ISBN 1-4160-2999-0.
  7. 1 2 "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-04-16.
  8. ↑ Wildin RS, Smyk-Pearson S, Filipovich AH (August 2002). "Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome". J Med Genet. 39 (8): 537–45. doi:10.1136/jmg.39.8.537. PMC 1735203. PMID 12161590.
  9. ↑ Verbsky, James W.; Chatila, Talal A. (2017-04-18). "Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-Related Disorders: an Evolving Web of Heritable Autoimmune Diseases". Current Opinion in Pediatrics. 25 (6): 708–714. doi:10.1097/MOP.0000000000000029. ISSN 1040-8703. PMC 4047515. PMID 24240290.

Further reading

  • Bacchetta, Rosa; Barzaghi, Federica; Roncarolo, Maria-Grazia (25 February 2016). "From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation". Annals of the New York Academy of Sciences. doi:10.1111/nyas.13011. ISSN 1749-6632. PMID 26918796.
  • Barzaghi, Federica; Passerini, Laura; Bacchetta, Rosa (1 January 2012). "Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity". Frontiers in Immunology. 3. doi:10.3389/fimmu.2012.00211. ISSN 1664-3224. Retrieved 15 April 2017.
  • Elzouki, A. Y.; Harfi, H. A.; Nazer, H.; Stapleton, F. B.; Oh, William; Whitley, R. J. (2012-01-10). Textbook of Clinical Pediatrics. Springer Science & Business Media. ISBN 9783642022029.
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