IPEX syndrome
| IPEX syndrome | |
|---|---|
 | |
| IPEX syndrome is inherited via X-linked recessive | |
| Specialty | Immunology  |
| 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
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[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.[9]
Diagnosis
The diagnosis of immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is consistent with the following criteria:[1]
- Clinical examination
- Family history
- Laboratory findings
- Genetic testing
Treatment
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]
- TPN (nutritional purpose)
- Cyclosporin A and FK506
- Sirolimus (should FK506 prove non-effective)
- Granulocyte colony stimulating factor
- Bone marrow transplant
- Rituximab
See also
References
- ^ a b c RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Immune dysregulation polyendocrinopathy enteropathy X linked syndrome". www.orpha.net. Retrieved 2017-04-18.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ a b Eisenbarth, George S. (2010-12-13). Immunoendocrinology: Scientific and Clinical Aspects. Springer Science & Business Media. pp. 129–138. ISBN 9781603274784.
- ^ a b c 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
- ^ a b Reference, Genetics Home. "IPEX syndrome". Genetics Home Reference. Retrieved 2017-04-16.
- ^ a b Reference, Genetics Home. "FOXP3 gene". Genetics Home Reference. Retrieved 2017-04-16.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - 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.