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    Topic review

    FOXP3 Gene

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    Submitted by: Vivi Li
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    Forkhead box P3

    1. Normal Function

    The FOXP3 gene provides instructions for producing the forkhead box P3 (FOXP3) protein. The FOXP3 protein attaches (binds) to specific regions of DNA and helps control the activity of genes that are involved in regulating the immune system. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body.

    On the basis of its role in controlling gene activity, the FOXP3 protein is called a transcription factor. This protein is essential for the production and normal function of certain immune cells called regulatory T cells, which play an important role in preventing autoimmunity. Autoimmunity occurs when the body attacks its own tissues and organs by mistake. The FOXP3 protein is found primarily in an immune system gland called the thymus, where these regulatory T cells are produced.

    2. Health Conditions Related to Genetic Changes

    2.1 Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome

    More than 60 mutations in the FOXP3 gene have been found to cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. This rare condition is characterized by the development of multiple autoimmune disorders in affected individuals, typically affecting the intestines, skin, and hormone-producing (endocrine) glands. Most of the FOXP3 gene mutations involved in IPEX syndrome change a protein building block (amino acid) in the region of the FOXP3 protein that binds to DNA or lead to the production of an abnormally short, nonfunctional protein. Mutations in the FOXP3 gene impair the normal function of regulatory T cells. Without the function of these cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders that develop in people with IPEX syndrome.

    2.2 Hashimoto Thyroiditis

    2.3 Type 1 Diabetes

    3. Other Names for This Gene

    • AIID

    • DIETER

    • FOXP3_HUMAN

    • immune dysregulation, polyendocrinopathy, enteropathy, X-linked

    • immunodeficiency, polyendocrinopathy, enteropathy, X-linked

    • IPEX

    • JM2

    • MGC141961

    • MGC141963

    • PIDX

    • scurfin

    • XPID

    This entry is adapted from https://medlineplus.gov/genetics/gene/foxp3

    References

    1. Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L,Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C,Ziegler SF, Levings MK, Roncarolo MG. Defective regulatory and effector T cellfunctions in patients with FOXP3 mutations. J Clin Invest. 2006Jun;116(6):1713-22.
    2. Bin Dhuban K, Piccirillo CA. The immunological and genetic basis of immunedysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Curr OpinAllergy Clin Immunol. 2015 Dec;15(6):525-32. doi: 10.1097/ACI.0000000000000214.Review.
    3. Fuchizawa T, Adachi Y, Ito Y, Higashiyama H, Kanegane H, Futatani T, KobayashiI, Kamachi Y, Sakamoto T, Tsuge I, Tanaka H, Banham AH, Ochs HD, Miyawaki T.Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol. 2007Dec;125(3):237-46.
    4. Nik Tavakoli N, Hambly BD, Sullivan DR, Bao S. Forkhead box protein 3:essential immune regulatory role. Int J Biochem Cell Biol. 2008;40(11):2369-73.
    5. Otsubo K, Kanegane H, Kamachi Y, Kobayashi I, Tsuge I, Imaizumi M, Sasahara Y,Hayakawa A, Nozu K, Iijima K, Ito S, Horikawa R, Nagai Y, Takatsu K, Mori H, OchsHD, Miyawaki T. Identification of FOXP3-negative regulatory T-like(CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation,polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol. 2011Oct;141(1):111-20. doi: 10.1016/j.clim.2011.06.006.
    6. Tan QKG, Louie RJ, Sleasman JW. IPEX Syndrome. 2004 Oct 19 [updated 2018 Jul19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1118/
    7. Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. JAllergy Clin Immunol. 2007 Oct;120(4):744-50; quiz 751-2. Review.
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