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Relevant bibliographies by topics / IPEX syndrome

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Journal articles

Academic literature on the topic 'IPEX syndrome'

Author: Grafiati

Published: 21 February 2023

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Journal articles on the topic "IPEX syndrome"

1

Radlovic, Nedeljko, Dragana Janic, Silvija Sajic, et al. "IPEX syndrome: Case report." Srpski arhiv za celokupno lekarstvo 136, no. 9-10 (2008): 538–41. http://dx.doi.org/10.2298/sarh0810538r.

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INTRODUCTION IPEX syndrome, namely, a hereditary (X-linked) immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOXP3), which, by differentiation and activation of regular T-lymphocytic CD4+CD25+, has the key role in the induction and maintenance of the peripheral tolerance of one's own tissue. CASE OUTLINE We present a male infant with classic clinical features of IPEX syndrome, which manifested by the end of t

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2

Ben-Skowronek, Iwona. "IPEX Syndrome: Genetics and Treatment Options." Genes 12, no. 3 (2021): 323. http://dx.doi.org/10.3390/genes12030323.

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(1) Background: IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome characterizes a complex autoimmune reaction beginning in the perinatal period, caused by a dysfunction of the transcription factor forkhead box P3 (FOXP3). (2) Objectives: Studies have shown the clinical, immunological, and molecular heterogeneity of patients with IPEX syndrome. The symptoms, treatment, and survival were closely connected to the genotype of the IPEX syndrome. Recognition of the kind of mutation is important for the diagnostics of IPEX syndrome in newborns and young infants, as well

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3

Murguia-Favela, Luis, Vy Hong-Diep Kim, Julia Upton, et al. "IPEX syndrome caused by a novel mutation in FOXP3 gene can be cured by bone marrow transplantation from an unrelated donor after myeloablative conditioning." LymphoSign Journal 2, no. 1 (2015): 31–38. http://dx.doi.org/10.14785/lpsn-2014-0016.

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency caused by inherited defects in the FOXP3 gene that impair regulatory T cells. IPEX syndrome can be cured by hematopoietic stem cell transplantation (HSCT) from HLA-matched unrelated donors (MUD); however, the best conditioning prior to HSCT for IPEX syndrome is not known. Here we report on a patient suffering from IPEX syndrome, including immune-mediated colitis and membranous nephropathy, without polyendocrinopathy, caused by a novel mutation in the Forkhead domain of the FOXP3 g

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4

Bachelerie, M., E. Merlin, F. Beltzung, et al. "Érythrodermie révélatrice d’un syndrome IPEX." Annales de Dermatologie et de Vénéréologie 146, no. 12 (2019): 807–11. http://dx.doi.org/10.1016/j.annder.2019.04.026.

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5

Hashimura, Yuya, Kandai Nozu, Kyoko Kanda, et al. "Renal condition in IPEX Syndrome." Nihon Shoni Jinzobyo Gakkai Zasshi 22, no. 2 (2009): 131–35. http://dx.doi.org/10.3165/jjpn.22.131.

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6

Rodrigo, R., N. Atapattu, and KSH De Silva. "IPEX syndrome with membrano-proliferative nephrotic syndrome." Ceylon Medical Journal 58, no. 1 (2013): 43. http://dx.doi.org/10.4038/cmj.v58i1.5368.

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7

Steffin, David, Saleh Bhar, Douglas S. Fishman, et al. "Gastric Adenocarcinoma in the Setting of IPEX Syndrome." Case Reports in Immunology 2021 (June 25, 2021): 1–4. http://dx.doi.org/10.1155/2021/9967198.

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the FOXP3 gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aberrant FOXP3 expression has been associated with several types of cancer, little is known regarding the risk of cancer in patients with IPEX harboring the characteristic FOXP3 mutation. Here, we present a unique case of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX synd

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8

Shadrin, O. G., T. L. Marushko, A. P. Volokha, and R. V. Marushko. "Primary immunodeficiency: IPEX-syndrome. Literature review and clinical case." Modern pediatrics. Ukraine, no. 2(122) (March 30, 2022): 63–71. http://dx.doi.org/10.15574/sp.2022.122.63.

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IPEX-syndrome (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome) is a severe inherited X-linked disease from the group of primary immunodeficiencies associated with mutations in the FOXP3 gene, which encodes a key transcription factor for T-regulatory lymphocytes. In the pathogenesis of the disease the main role plays disorder of maturation of CD25 + CD4 + -T-regulatory lymphocytes (TR), which carry out negative selection of autoreactive clones of T- and B-lymphocytes, resulting in loss of autotolerance and early development of multiorgan autoimmune pathology in combina

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9

OTSUBO, Keisuke, Hirokazu KANEGANE, Ichiro KOBAYASHI, and Toshio MIYAWAKI. "IPEX syndrome and human Treg cells." Japanese Journal of Clinical Immunology 33, no. 4 (2010): 196–206. http://dx.doi.org/10.2177/jsci.33.196.

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10

Patey-Mariaud de Serre, Natacha, Danielle Canioni, Soléne Ganousse, et al. "Digestive histopathological presentation of IPEX syndrome." Modern Pathology 22, no. 1 (2008): 95–102. http://dx.doi.org/10.1038/modpathol.2008.161.

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