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Items: 1 to 20 of 126

1.
Case Report: Eosinophilic gastritis with pyloric stenosis in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Ronghua Yu, Yongmei Xiao, Wuhen Xu, Ting Zhang, Yizhong Wang, Hui Hu
Front Pediatr. 2022; 10: 1039341. Published online 2022 Nov 21. doi: 10.3389/fped.2022.1039341
PMCID:
PMC9720107
ArticlePubReaderPDF–2.2MCite
2.
Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China–expanding the atypical phenotypes
Yu Huang, Shuyu Fang, Ting Zeng, Junjie Chen, Lu Yang, Gan Sun, Rongxin Dai, Yunfei An, Xuemei Tang, Ying Dou, Xiaodong Zhao, Lina Zhou
Front Immunol. 2022; 13: 972746. Published online 2022 Aug 24. doi: 10.3389/fimmu.2022.972746
PMCID:
PMC9448973
ArticlePubReaderPDF–4.0MCite
3.
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
Gülay Karagüzel, Recep Polat, Mehtap H. Abul, Alper Han Cebi, Fazıl Orhan
J Clin Res Pediatr Endocrinol. 2022 Sep; 14(3): 361–365. Published online 2022 Aug 25. doi: 10.4274/jcrpe.galenos.2021.2021.0005
PMCID:
PMC9422912
ArticlePubReaderPDF–196KCite
4.
Cow's milk allergy non‐responsive to amino acid‐based formula? A successful transplanted patient with immune dysregulation, polyendocrinopathy, enteropathy, and X‐linked syndrome
Liz Veramendi‐Espinoza, Claudia Alejandra Rentería‐Valdiviezo, Roxana Díaz‐Subauste, Juan Carlos Aldave‐Becerra, Guisela Alva‐Lozada, Marco Becilli, Franco Locatelli
Clin Case Rep. 2021 Oct; 9(10): e04900. Published online 2021 Oct 5. doi: 10.1002/ccr3.4900
PMCID:
PMC8491244
ArticlePubReaderPDF–879KCite
5.
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Manifesting as Lymphocytic Interstitial Pneumonia and Treatment-Resistant Bullous Pemphigoid
Stine Maria Andersen, Simon Fage, Sune Rubak, Mette Holm, Jens Magnus Bernth Jensen, Trine H. Mogensen, Mette Deleuran
Pediatr Allergy Immunol Pulmonol. June 2021; 34(2): 76–79. Published online 2021 Jun 16. doi: 10.1089/ped.2020.1307
PMCID:
PMC8329723
ArticlePubReaderPDF–345KCite
6.
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
M. Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, Claudia Isabelle Keller Valsecchi, Tuğçe Aktaş, Yannis Duffourd, Tobias Rumpf, Jenny Morton, Iben Bache, Witold G. Szymanski, Christian Gilissen, Olivier Vanakker, Katrin Õunap, Gerhard Mittler, Ineke van der Burgt, Salima El Chehadeh-Djebbar, Megan T Cho, Rolph Pfundt, Tiong Yang Tan, Maria Kirchhoff, Björn Menten, Sarah Vergult, Kristin Lindstrom, André Reis, Diana S. Johnson, Alan Fryer, Victoria McKay, DDD Study, Richard B. Fisher, Christel Thauvin-Robinet, David Francis, Tony Roscioli, Sander Pajusalu, Kelly Radtke, Jaya Ganesh, Han G. Brunner, Meredith Wilson, Laurence Faivre, Vera M. Kalscheuer, Julien Thevenon, Asifa Akhtar
Nat Genet. Author manuscript; available in PMC 2020 Aug 3.
Published in final edited form as: Nat Genet. 2018 Oct; 50(10): 1442–1451. Published online 2018 Sep 17. doi: 10.1038/s41588-018-0220-y
PMCID:
PMC7398719
ArticlePubReaderPDF–2.2MCite
7.
Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report
Na Su, Cheng Chen, Xia Zhou, Guo-Da Ma, Ri-Ling Chen, Chuan Tian
World J Clin Cases. 2020 May 26; 8(10): 1988–1994. Published online 2020 May 26. doi: 10.12998/wjcc.v8.i10.1988
PMCID:
PMC7262694
ArticlePubReaderPDF–9.0MCite
8.
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene
Charalampos Agakidis, Eleni Agakidou, Kosmas Sarafidis, Ioannis Papoulidis, Ioannis Xinias, Evangelia Farmaki
Front Pediatr. 2019; 7: 20. Published online 2019 Feb 5. doi: 10.3389/fped.2019.00020
PMCID:
PMC6370736
ArticlePubReaderPDF–873KCite
9.
Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study
R. Duclaux-Loras, F. Charbit-Henrion, B. Neven, J. Nowak, S. Collardeau-Frachon, C. Malcus, P. F. Ray, D. Moshous, J. Beltrand, O. Goulet, N. Cerf-Bensussan, A. Lachaux, F. Rieux-Laucat, F. M. Ruemmele
Clin Transl Gastroenterol. 2018 Oct; 9(10): 201. Published online 2018 Nov 2. doi: 10.1038/s41424-018-0064-x
PMCID:
PMC6212456
ArticlePubReaderPDF–888KCite
10.
FOXP3 Mutations Causing Early-Onset Insulin-Requiring Diabetes but Without Other Features of IPEX Syndrome: FOXP3 mutations with IPEX-like Diabetes
Jessica L. Hwang, Soo-Young Park, Honggang Ye, May Sanyoura, Ashley N. Pastore, David Carmody, Daniela del Gaudio, Janna F. Wilson, Craig L. Hanis, Xiaoming Liu, T2D-Genes Consortium, Gil Atzmon, Benjamin Glaser, Louis H. Philipson, Siri Atma W. Greeley
Pediatr Diabetes. Author manuscript; available in PMC 2019 May 1.
Published in final edited form as: Pediatr Diabetes. 2018 May; 19(3): 388–392. Published online 2017 Nov 29. doi: 10.1111/pedi.12612
PMCID:
PMC5918222
ArticlePubReaderPDF–419KCite
11.
Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report
Ting Ge, Yizhong Wang, Yanran Che, Yongmei Xiao, Ting Zhang
Front Pediatr. 2017; 5: 267. Published online 2017 Dec 12. doi: 10.3389/fped.2017.00267
PMCID:
PMC5732958
ArticlePubReaderPDF–994KCite
12.
A Distinct X-Linked Syndrome Involving Joint Contractures, Keloids, Large Optic Cup-to-Disc Ratio, and Renal Stones Results From a Filamin A (FLNA) Mutation
Melissa Lah, Tejasvi Niranjan, Sujata Srikanth, Lynda Holloway, Charles E. Schwartz, Tao Wang, David D. Weaver
Am J Med Genet A. Author manuscript; available in PMC 2017 Aug 9.
Published in final edited form as: Am J Med Genet A. 2016 Apr; 170A(4): 881–890. Published online 2016 Jan 24. doi: 10.1002/ajmg.a.37567
PMCID:
PMC5549633
ArticlePubReaderPDF–853KCite
13.
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
Laila C. Schenkel, Kristin D. Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J. Ainsworth, David I. Rodenhiser, Guillaume Pare, Nathalie G. Bérubé, Cindy Skinner, Kym M. Boycott, Charles Schwartz, Bekim Sadikovic
Epigenetics Chromatin. 2017; 10: 10. Published online 2017 Mar 10. doi: 10.1186/s13072-017-0118-4
PMCID:
PMC5345252
ArticlePubReaderPDF–1.6MCite
14.
Gene/Cell Therapy Approaches for Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome
Laura Passerini, Francesca R. Santoni de Sio, Matthew H. Porteus, Rosa Bacchetta
Curr Gene Ther. 2014 Dec; 14(6): 422–428. Published online 2014 Dec. doi: 10.2174/1566523214666141001123828
PMCID:
PMC4443799
ArticlePubReaderPDF–865KCite
15.
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea
Daniele Zama, Ilaria Cocchi, Riccardo Masetti, Fernando Specchia, Patrizia Alvisi, Eleonora Gambineri, Mario Lima, Andrea Pession
Ital J Pediatr. 2014; 40: 68. Published online 2014 Oct 18. doi: 10.1186/s13052-014-0068-4
PMCID:
PMC4421998
ArticlePubReaderPDF–909KCite
16.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
Yu Sun, Beata Bak, Nadia Schoenmakers, A.S. Paul van Trotsenburg, Wilma Oostdijk, Peter Voshol, Emma Cambridge, Jacqueline K. White, Paul le Tissier, S. Neda Mousavy Gharavy, Juan P. Martinez-Barbera, Wilhelmina H. Stokvis-Brantsma, Thomas Vulsma, Marlies J. Kempers, Luca Persani, Irene Campi, Marco Bonomi, Paolo Beck-Peccoz, Hongdong Zhu, Timothy M.E. Davis, Anita C.S. Hokken-Koelega, Daria Gorbenko Del Blanco, Jayanti J. Rangasami, Claudia A.L. Ruivenkamp, Jeroen F.J. Laros, Marjolein Kriek, Sarina G. Kant, Cathy A.J. Bosch, Nienke R. Biermasz, Natasha M. Appelman-Dijkstra, Eleonora P. Corssmit, Guido C.J. Hovens, Alberto M. Pereira, Johan T. den Dunnen, Michael G. Wade, Martijn H. Breuning, Raoul C. Hennekam, Krishna Chatterjee, Mehul T. Dattani, Jan M. Wit, Daniel J. Bernard
Nat Genet. Author manuscript; available in PMC 2013 Jun 1.
Published in final edited form as: Nat Genet. 2012 Dec; 44(12): 1375–1381. Published online 2012 Nov 11. doi: 10.1038/ng.2453
PMCID:
PMC3511587
ArticlePubReaderPDF–2.2MCite
17.
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity
Federica Barzaghi, Laura Passerini, Rosa Bacchetta
Front Immunol. 2012; 3: 211. Published online 2012 Jul 31. doi: 10.3389/fimmu.2012.00211
PMCID:
PMC3459184
ArticlePubReaderPDF–1.1MCite
18.
Stable Hematopoietic Cell Engraftment after Low-Intensity Nonmyeloablative Conditioning in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome
Lauri M. Burroughs, Troy R. Torgerson, Rainer Storb, Paul A. Carpenter, David J. Rawlings, Jean Sanders, Andrew M. Scharenberg, Suzanne Skoda-Smith, Janet Englund, Hans D. Ochs, Ann E. Woolfrey
J Allergy Clin Immunol. Author manuscript; available in PMC 2011 Nov 1.
Published in final edited form as: J Allergy Clin Immunol. 2010 Nov; 126(5): 1000–1005. doi: 10.1016/j.jaci.2010.05.021
PMCID:
PMC2962731
ArticlePubReaderPDF–83KCite
19.
Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)
A C Bakke, M Z Purtzer, R S Wildin
Clin Exp Immunol. 2004 Aug; 137(2): 373–378. doi: 10.1111/j.1365-2249.2004.02537.x
PMCID:
PMC1809121
ArticlePubReaderPDF–254KCite
20.
Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure.
I D Hay, P J Smail, C C Forsyth
Arch Dis Child. 1981 Sep; 56(9): 715–721. doi: 10.1136/adc.56.9.715
PMCID:
PMC1627293
SummaryPage BrowsePDF–1018KCite

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