TPN(nutritional purpose), Cyclosporin A and FK506, Bone marrow transplant[3][4]
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is a rare autoimmune disease. It is one of the autoimmune polyendocrine syndromes. Most often, IPEX presents with autoimmune enteropathy, dermatitis (eczema), and autoimmune endocrinopathy (most often Type 1 diabetes), but other presentations exist.[5]
IPEX is caused by mutations in the gene FOXP3, which encodes transcription factor forkhead box P3 (FOXP3). FOXP3 is widely considered to be the master regulator of the regulatory T cell (Treg) lineage.[6][7]FOXP3 mutation can lead to the dysfunction of CD4+ Tregs. In healthy people, Tregs maintain immune homeostasis.[8] When there is a deleterious FOXP3 mutation, Tregs do not function properly and cause autoimmunity.[8][9]
IPEX onset usually happens in infancy. If left untreated, it is often fatal by the age of 2 or 3.[10][11] A bone marrow transplant is generally considered the best treatment option.[11] IPEX exclusively affects males and is inherited in an X-linked recessive manner;[1][2] female carriers of pathogenic FOXP3 mutations do not have symptoms and no female cases are known.[4]
^ ab"Immunodysregulation, polyendocrinopathy and enteropathy X-linked | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2019-01-09. Retrieved 2017-04-16.
^Eisenbarth GS (2010-12-13). Immunoendocrinology: Scientific and Clinical Aspects. Springer Science & Business Media. pp. 129–138. ISBN 9781603274784.
^ abHannibal M, Torgerson T (1993-01-01). "IPEX Syndrome". In RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Ledbetter N, Mefford H (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301297.update 2011
^"Embase". www.embase.com. Retrieved 2023-04-04.
^"IPEX syndrome". Genetics Home Reference. Retrieved 2017-04-16.
^"FOXP3 gene". Genetics Home Reference. Retrieved 2017-04-16.
^ abHuang, Qianru; Liu, Xu; Zhang, Yujia; Huang, Jingyao; Li, Dan; Li, Bin (2020-01-20). "Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome". Journal of Genetics and Genomics. 47 (1): 17–26. doi:10.1016/j.jgg.2019.11.011. ISSN 1673-8527. PMID 32081609. S2CID 211231953.
^Bacchetta, Rosa; Barzaghi, Federica; Roncarolo, Maria-Grazia (April 2018). "From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation: IPEX syndrome and FOXP3". Annals of the New York Academy of Sciences. 1417 (1): 5–22. Bibcode:2018NYASA1417....5B. doi:10.1111/nyas.13011. PMID 26918796. S2CID 11149833.
^Bacchetta, Rosa; Barzaghi, Federica; Roncarolo, Maria-Grazia (2018). "From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation: IPEX syndrome and FOXP3". Annals of the New York Academy of Sciences. 1417 (1): 5–22. Bibcode:2018NYASA1417....5B. doi:10.1111/nyas.13011. PMID 26918796. S2CID 11149833.
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