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Journal articles on the topic 'IPEX syndrome'

Author: Grafiati

Published: 21 February 2023

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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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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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11

Duztas, Demet Teker, Lina Al-Shadfan, Hakan Ozturk, et al. "New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum." Pediatric and Developmental Pathology 24, no. 3 (2021): 252–57. http://dx.doi.org/10.1177/1093526621998868.

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Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene forkhead box protein 3 (FOXP3). IPEX patients frequently show chronic diarrhea (enteropathy) associated with villous atrophies in the small intestine. Our case is different from this classical information in the literature, since he presented with neonatal onset inflammatory bowel disease within the first months of life accompanied by deep ulcers throughout colonic mucosa. Moreover, he developed chronic lung disease during follow-up and histopat

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12

Anh Linh, Duong, Nguyen Thi Kim Lien, Nguyen Van Tung, et al. "Whole-exome sequencing as a diagnostic tool for ipex syndrome." Academia Journal of Biology 44, no. 1 (2022): 53–60. http://dx.doi.org/10.15625/2615-9023/16305.

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Immune dysregulation-Polyendocrinopathy-Enteropathy-X-linked (IPEX) syndrome is a life-threatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. Typical clinical manifestations of IPEX patients are early onset of intractable diarrhea, type 1 diabetes mellitus, and skin diseases. However, other autoimmune types such as severe food allergies, autoimmune cytopenias, autoimmune respiratory illness, and mesangial glomerulonephritis may complicate IPEX diagnosis. In this study, we report a Vietnamese 1-year-old boy with IPEX syndrome due to a hemizygo

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13

Sayar, Ersin, Ali Islek, Aygen Yilmaz, Gulsum O. Elpek, and Reha Artan. "Intestinal Dysfunction in APECED Syndrome Could Mimic IPEX Syndrome." Journal of Pediatric Gastroenterology and Nutrition 56, no. 4 (2013): e27. http://dx.doi.org/10.1097/mpg.0b013e318283f3c8.

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14

Heltzer, Meredith, John Choi, Hans Ochs, Kathleen Sullivan, Troy Torgerson, and Linda Ernst. "A Potential Screening Tool for IPEX Syndrome." Pediatric and Developmental Pathology preprint, no. 2007 (2006): 1. http://dx.doi.org/10.2350/06-07-0130.

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15

Heltzer, Meredith Lee, John K. Choi, Hans D. Ochs, Kathleen E. Sullivan, Troy R. Torgerson, and Linda M. Ernst. "A Potential Screening Tool for IPEX Syndrome." Pediatric and Developmental Pathology 10, no. 2 (2007): 98–105. http://dx.doi.org/10.2350/06-07-0130.1.

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16

Myers, A. K. "Clinical and molecular findings in IPEX syndrome." Archives of Disease in Childhood 91, no. 1 (2005): 63–64. http://dx.doi.org/10.1136/adc.2005.078287.

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17

Goodwin, M., E. Lee, U. Lakshmanan, et al. "CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells." Science Advances 6, no. 19 (2020): eaaz0571. http://dx.doi.org/10.1126/sciadv.aaz0571.

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The prototypical genetic autoimmune disease is immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, a severe pediatric disease with limited treatment options. IPEX syndrome is caused by mutations in the forkhead box protein 3 (FOXP3) gene, which plays a critical role in immune regulation. As a monogenic disease, IPEX is an ideal candidate for a therapeutic approach in which autologous hematopoietic stem and progenitor (HSPC) cells or T cells are gene edited ex vivo and reinfused. Here, we describe a CRISPR-based gene correction permitting regulated expression of FOXP3

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18

Al Maawali, Ali, Beata Derfalvi, Johan Van Limbergen, et al. "IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom." Case Reports in Immunology 2020 (September 9, 2020): 1–5. http://dx.doi.org/10.1155/2020/9860863.

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IPEX (immune dysregulation-polyendocrinopathy-enteropathy-X-linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the FOXP3 gene. This can lead to quantitative or functional deficiency of regulatory T cells (Treg), thereby affecting their immune-suppressive actions which can in turn cause autoimmune and inflammatory disorders. We describe an infant with IPEX syndrome with unremarkable maternal family history whose only presentations were severe diarrhea and malnutrition. The patient had a normal percentage of Treg cells and FOXP3 protein expression, but furt

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19

van der Vliet, Hans J. J., and Edward E. Nieuwenhuis. "IPEX as a Result of Mutations in FOXP3." Clinical and Developmental Immunology 2007 (2007): 1–5. http://dx.doi.org/10.1155/2007/89017.

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Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in theFOXP3gene that result in the defective development ofCD4+CD25+regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including autoimmune enteropathy, dermatitis, thyroiditis, and type 1 diabetes, frequently resulting in death within the first 2 years of life. Apart from its clinical implications, IPEX illustrates th

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20

Tikhonovich, Yu V., E. E. Petryaikina, I. G. Rybkina, I. V. Garyaeva, and A. N. Tyul’pakov. "X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review." Problems of Endocrinology 60, no. 5 (2014): 29–33. http://dx.doi.org/10.14341/probl201460529-33.

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IPEX syndrome (X-linked immune dysregulation, polyendocrinopathy, enteropathy) is one of the rare hereditary X-linked forms of neonatal diabetes mellitus associated with mutations in the FOXP3 gene. The disease is characterized by the combination of polyendocrinopathy (more frequently neonatal diabetes mellitus) with enteropathy and immune dysregulation. In the majority of the cases it has an unfavourable prognosis. The present article presents for the first time in the Russian-speaking literature the description of the genetically verified case of IPEX syndrome.

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21

Halász, Zita. "Endokrin szövődmények primer immundeficientiában." Orvosi Hetilap 159, no. 49 (2018): 2065–72. http://dx.doi.org/10.1556/650.2018.31122.

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Abstract: Experimental and clinical data suggest a complex interaction between the endocrine and immune systems. However, only few epidemiological studies are available dealing with endocrine complications in different types of primary immunodeficiency diseases. It is well documented that there is a close association between immunodeficiency syndromes and the development of autoimmune disorders. Most of the endocrine dysfunctions are caused mainly by immune dysregulation and autoimmunity like in APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy) and IPEX (immune dysregul

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22

Park, Eujin, Hye Jin Chang, Jae Il Shin, et al. "Familial IPEX syndrome: Different glomerulopathy in two siblings." Pediatrics International 57, no. 2 (2015): e59-e61. http://dx.doi.org/10.1111/ped.12570.

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23

Sullivan, S., S. Gordon, B. Ujhazi, et al. "LATE ONSET IPEX SYNDROME IN AN ADOLESCENT MALE." Annals of Allergy, Asthma & Immunology 129, no. 5 (2022): S131. http://dx.doi.org/10.1016/j.anai.2022.08.883.

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24

Turkunova, Mariia E., Liliya V. Ditkovskaya, Evgenii N. Suspitsin, Ludmila V. Tyrtova, Ludmila A. Jelenina, and Marina N. Guseva. "Neonatal Diabetes Mellitus in the Structure of IPEX Syndrome." Pediatrician (St. Petersburg) 8, no. 2 (2017): 99–104. http://dx.doi.org/10.17816/ped8299-104.

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This disease is characterized by the onset of primary immunodeficiency, which expresses itself as autoimmune multisystem failure, often clinically manifests during the first year of life; there are only about 150 cases in the world described by now. IPEX syndrome is caused by FOXP3 gene defect, which is a transcription factor that affects the activity of regulatory T-cells responsible for the maintenance of aytotolerance. There are around 70 pathogenic mutations in this gene described so far. Most patients with IPEX-syndrome have a clinical manifestations of the disease in the early neonatal p

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25

Owen, Catherine J., Claire E. Jennings, Helen Imrie, et al. "Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome." Journal of Clinical Endocrinology & Metabolism 88, no. 12 (2003): 6034–39. http://dx.doi.org/10.1210/jc.2003-031080.

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Abstract The immunodysregulation, polyendocrinopathy, enteropathy syndrome (IPEX), is a rare disorder of immune regulation resulting in multiple autoimmune disorders, which demonstrates X-linked recessive inheritance. The disease gene, FOXP3, was identified in 2001, and several mutations within this gene have since been described in patients with IPEX. We used linkage analysis, mutational screening of the FOXP3 gene, human leukocyte antigen typing, and analysis of X-chromosome inactivation to investigate 2 kindreds (21 subjects in total) with 4 male infants (3 now deceased) and 1 girl affected

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26

Rao, Aarati, Naynesh Kamani, Alexandra Filipovich, et al. "Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning." Blood 109, no. 1 (2006): 383–85. http://dx.doi.org/10.1182/blood-2006-05-025072.

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Abstract Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, fatal autoimmune disorder caused by mutations in the FOXP3 gene leading to the disruption of signaling pathways involved in regulatory T-lymphocyte function. Lifelong multiagent immunosuppression is necessary to control debilitating autoimmune manifestations such as colitis and food allergies. Allogeneic hematopoietic stem cell transplantation (HSCT) can restore T-cell regulatory function but has been previously associated with poor outcome. We describe successful HSCT in 4 patients with IPEX sy

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27

Torgerson, Troy R. "Genetic Disorders of Immune Tolerance: The Flip Side of Immune Deficiency Where Autoimmunity Trumps Infection." Blood 130, Suppl_1 (2017): SCI—29—SCI—29. http://dx.doi.org/10.1182/blood.v130.suppl_1.sci-29.sci-29.

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Abstract Primary Immune Regulatory Disorders (PIRD) are group of congenital Immunodeficiencies that present primarily with autoimmunity and less frequently with infections. The paradigm for these disorders is the syndrome of Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX), a disorder caused by a lack of functional regulatory T cells due defects in the lineage-specifying transcription factor, FOXP3. We have collected and evaluated a large cohort of patients with clinical manifestations suggestive of IPEX and have found FOXP3 mutations in more than 90 patients. This has in

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28

Hagin, David, Hans D. Ochs, and Troy R. Torgerson. "Whole Exome Sequencing (WES) of a Small IPEX-like Patient Cohort results in High Hit Rate and Supports Focusing on the Usual Suspects." Journal of Immunology 196, no. 1_Supplement (2016): 193.8. http://dx.doi.org/10.4049/jimmunol.196.supp.193.8.

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Abstract IPEX (Immune dysregulation Polyendocrinopathy Enteropathy X-linked) syndrome is caused by mutations in FOXP3. The term IPEX-Like is used to describe patients with features of IPEX syndrome and normal FOXP3 sequencing. A cohort of 15 IPEX-like patients was submitted for WES and analyzed in search for underlying monogenic defects. Potential causative mutations were identified in 46% (7/15). Major clinical features and mutations identified are presented below. Despite an obvious analysis bias, the high prevalence of previously described causative genes supports a two-step approach for st

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29

Shanes, Elisheva, Lauren Propst, David W. Ouyang, and Linda M. Ernst. "Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome." Pediatric and Developmental Pathology 22, no. 5 (2019): 465–71. http://dx.doi.org/10.1177/1093526619834809.

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a clinical syndrome associated with mutations in FOXP3 and consequent abnormalities of T regulatory cells. Affected males typically die in infancy or early childhood from a variety of autoimmune conditions. Reports of recurrent pregnancy loss of male fetuses in these families have been accompanied by descriptions of nonimmune fetal hydrops, with or without additional fetal anomalies. Here, we report an additional family affected by IPEX with a novel mutation leading to recurrent second trimester fetal hydrops and intraut

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30

Doğruel, Dilek, Fatih Gürbüz, İhsan Turan, Derya Ufuk Altıntaş, Mustafa Yılmaz, and Bilgin Yüksel. "Unusual and early onset ipex syndrome: a case report." Turkish Journal of Pediatrics 61, no. 4 (2019): 580. http://dx.doi.org/10.24953/turkjped.2019.04.015.

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31

Vignoli, Marina, Sara Ciullini Mannurita, Lucia Bianchi, et al. "Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene?" Clinical Immunology 135 (January 2010): S140. http://dx.doi.org/10.1016/j.clim.2010.03.425.

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32

HORIUCHI, Sayaka, Akira ISHIGURO, Tomoko NAKAGAWA, et al. "A girl of IPEX syndrome with low expression of Foxp3." Japanese Journal of Clinical Immunology 35, no. 6 (2012): 526–32. http://dx.doi.org/10.2177/jsci.35.526.

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33

Knight, S., E. Autry, and M. Wurth. "M141 BORN IN DKA: IPEX-LIKE SYNDROME FROM CD25 DEFICIENCY." Annals of Allergy, Asthma & Immunology 127, no. 5 (2021): S90—S91. http://dx.doi.org/10.1016/j.anai.2021.08.282.

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34

Hines, Brittany, Benjamin L. Wright, Sheetal Wadera, et al. "IPEX Syndrome in Siblings with a Novel Variant in FOXP3." Journal of Allergy and Clinical Immunology 143, no. 2 (2019): AB118. http://dx.doi.org/10.1016/j.jaci.2018.12.357.

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35

Hua, C., M. Ferneiny, S. Fraitag, et al. "Une pemphigoïde bulleuse chez un nourisson révélatrice d’un IPEX syndrome." Annales de Dermatologie et de Vénéréologie 141, no. 12 (2014): S333—S334. http://dx.doi.org/10.1016/j.annder.2014.09.249.

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36

Ahmad, Bareeqah, Umair Masood, Anuj Sharma, and Savio John. "2402 A Rare Case of IPEX Syndrome With Hepatic Complications." American Journal of Gastroenterology 114, no. 1 (2019): S1333. http://dx.doi.org/10.14309/01.ajg.0000599140.51919.46.

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37

Wang, Jingxue, Xiaowen Li, Zhengcai Jia, et al. "Reduced FOXP3 expression causes IPEX syndrome onset: An implication from an IPEX patient and his disease-free twin brother." Clinical Immunology 137, no. 1 (2010): 178–80. http://dx.doi.org/10.1016/j.clim.2010.07.006.

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38

Jamee, Mahnaz, Majid Zaki-Dizaji, Bernice Lo, et al. "Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome." Journal of Allergy and Clinical Immunology: In Practice 8, no. 8 (2020): 2747–60. http://dx.doi.org/10.1016/j.jaip.2020.04.070.

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39

Goettel, Jeremy A., Subhabrata Biswas, Willem S. Lexmond, et al. "Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3." Blood 125, no. 25 (2015): 3886–95. http://dx.doi.org/10.1182/blood-2014-12-618363.

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Key Points Improved adaptive immune responses in humanized mice lacking murine MHC II and expressing human HLADR1. NOD.PrkdcscidIl2rγ−/−H2-Ab1−/− Tg(HLA-DR1) mice reconstituted with hematopoietic stem cells from an IPEX syndrome patient develop fatal autoimmunity.

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40

Novikova, V. P., N. E. Prokopyeva, and A. I. Khavkin. "Autoimmune enteropathy." Voprosy dietologii 11, no. 1 (2021): 25–32. http://dx.doi.org/10.20953/2224-5448-2021-1-25-32.

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Autoimmune enteropathy (AIE) is a rare disease characterised by severe diarrhoea and immune-mediated damage of the intestinal mucosa. The objective: based on analysis of modern literature to describe the diagnostic criteria, etiology, pathogenesis, epidemiology, clinical features and treatment of AIE in children. Results. The diagnostic criteria of AIE include chronic diarrhoea (lasting more than 6 weeks), malabsorption syndrome, specific histological findings of small intestine biopsy when other causes of villous atrophy are excluded. An additional criterion is the presence of antibodies agai

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41

Delville, Marianne, Florence Bellier, Juliette Leon, et al. "A combination of cyclophosphamide and interleukin-2 allows CD4+ T cells converted to Tregs to control scurfy syndrome." Blood 137, no. 17 (2021): 2326–36. http://dx.doi.org/10.1182/blood.2020009187.

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Abstract Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is caused by mutations in forkhead box P3 (FOXP3), which lead to the loss of function of regulatory T cells (Tregs) and the development of autoimmune manifestations early in life. The selective induction of a Treg program in autologous CD4+ T cells by FOXP3 gene transfer is a promising approach for curing IPEX. We have established a novel in vivo assay of Treg functionality, based on adoptive transfer of these cells into scurfy mice (an animal model of IPEX) and a combination of cyclophosphamide (Cy) condit

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42

Alassaf, Abeer, and Rasha Odeh. "Ipex syndrome: an easily-missed diagnosis of a life threatening condition." Turkish Journal of Pediatrics 61, no. 3 (2019): 424. http://dx.doi.org/10.24953/turkjped.2019.03.016.

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43

Scaillon, M., S. Van Biervliet, P. Bontems, et al. "Severe Gastritis in an Insulin-dependent Child With an IPEX Syndrome." Journal of Pediatric Gastroenterology and Nutrition 49, no. 3 (2009): 368–70. http://dx.doi.org/10.1097/mpg.0b013e3181a159de.

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44

Lucas, Kenneth G., Melanie A. Comito, David R. Ungar, and Brandt P. Groh. "Submyeloablative Cord Blood Transplant Corrects Clinical Defects Seen in IPEX Syndrome." Blood 108, no. 11 (2006): 5414. http://dx.doi.org/10.1182/blood.v108.11.5414.5414.

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Abstract IPEX syndrome (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) is a disorder of regulatory T cell function caused by mutations in the FOXP3 gene. This disorder is generally associated with a fatal outcome early in life from complications related to bleeding, infection, or enteritis. Allogeneic stem cell transplant (SCT) can be curative for this disorder, but pre-transplant disease-related complications may preclude a full myeloablative conditioning regimen. We report a seven year old boy with IPEX whose pre-transplant course was complicated by recurrent laryngeal papill

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45

Halabi-Tawil, M., F. M. Ruemmele, S. Fraitag, et al. "Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome." British Journal of Dermatology 160, no. 3 (2009): 645–51. http://dx.doi.org/10.1111/j.1365-2133.2008.08835.x.

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46

Bacchetta, Rosa, Federica Barzaghi, and Maria-Grazia Roncarolo. "From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation." Annals of the New York Academy of Sciences 1417, no. 1 (2016): 5–22. http://dx.doi.org/10.1111/nyas.13011.

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47

Goodwin, Marianne, Francesca Santoni de Sio, Daniel Dever, Matthew Porteus, Maria Grazia Roncarolo, and Rosa Bacchetta. "123. Gene Editing as a Therapeutic Approach to Treat IPEX Syndrome." Molecular Therapy 24 (May 2016): S51. http://dx.doi.org/10.1016/s1525-0016(16)32932-x.

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48

Park, Jae Hyon, Keum Hwa Lee, Bokyoung Jeon, et al. "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review." Autoimmunity Reviews 19, no. 6 (2020): 102526. http://dx.doi.org/10.1016/j.autrev.2020.102526.

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Chuva, Teresa, Frederick Pfister, Ortraud Beringer, Kerstin Felgentreff, Maike Büttner-Herold, and Kerstin Amann. "PLA2R-positive (primary) membranous nephropathy in a child with IPEX syndrome." Pediatric Nephrology 32, no. 9 (2017): 1621–24. http://dx.doi.org/10.1007/s00467-017-3682-8.

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d'Hennezel, Eva, Khalid Bin Dhuban, Troy Torgerson, and Ciriaco Piccirillo. "The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome." Journal of Medical Genetics 49, no. 5 (2012): 291–302. http://dx.doi.org/10.1136/jmedgenet-2012-100759.

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