IPEX syndrome

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IPEX syndrome
X-linked recessive.svg
IPEX syndrome is inherited via X-linked recessive
Classification and external resources
Specialty immunology
ICD-10 E31.0
OMIM 304790
DiseasesDB 33417
GeneReviews
Orphanet 37042

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.[1][2] It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity.[3] 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.[3][4] Management for immunodysregulation polyendocrinopathy enteropathy X-linked syndrome has seen limited success in treating the syndrome by bone marrow transplantation.[5]

Symptoms and signs[edit]

Eczema

Some of the symptoms and signs of IPEX syndrome are the following:[4]

Genetics[edit]

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.[1][2]

Mechanism[edit]

This autoimmunity called IPEX is an attack from the body's own immune system against the body's own tissues and organs.[6] Early age onset of this disease in males causes severe enlargement of the secondary lymphoid organs,and insulin dependent diabetes[medical citation needed]

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.[7]

Diagnosis[edit]

The diagnosis of immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is consistent with the following criteria:[8]

Treatment[edit]

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):[6][9]

See also[edit]

References[edit]

  1. ^ a b Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Retrieved 2017-04-16. 
  2. ^ a b Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Retrieved 2017-04-16. 
  3. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 72. ISBN 1-4160-2999-0. 
  4. ^ a b "Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-04-16. 
  5. ^ 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. PMC 1735203Freely accessible. PMID 12161590. doi:10.1136/jmg.39.8.537. 
  6. ^ a b 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
  7. ^ 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. ISSN 1040-8703. PMID 24240290. doi:10.1097/MOP.0000000000000029. 
  8. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome". www.orpha.net. Retrieved 2017-04-18. 
  9. ^ Eisenbarth, George S. (2010-12-13). Immunoendocrinology: Scientific and Clinical Aspects. Springer Science & Business Media. pp. 129–138. ISBN 9781603274784. 

Further reading[edit]

External links[edit]