Literature DB >> 25187107

Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.

Erika Smith1, Siri Atma W Greeley, Honggang Ye, Troy R Torgerson, Reed Dimmitt, Prescott Atkinson, Joseph Philips, Frederick Goldman.   

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Year:  2016        PMID： 25187107      PMCID： PMC4346554          DOI： 10.1097/MPG.0000000000000554

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  6 in total

1.  Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders.

Authors:  Aatur D Singhi; Alka Goyal; Jon M Davison; Miguel D Regueiro; Robyn L Roche; Sarangarajan Ranganathan
Journal:  Mod Pathol       Date:  2013-09-20       Impact factor: 7.842

Review 2.  Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.

Authors:  Siri Atma W Greeley; Rochelle N Naylor; Louis H Philipson; Graeme I Bell
Journal:  Curr Diab Rep       Date:  2011-12       Impact factor: 4.810

3.  Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.

Authors:  Catherine J Owen; Claire E Jennings; Helen Imrie; Alain Lachaux; Nicola A Bridges; Tim D Cheetham; Simon H S Pearce
Journal:  J Clin Endocrinol Metab       Date:  2003-12       Impact factor: 5.958

4.  Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.

Authors:  Tatsuya Fuchizawa; Yuichi Adachi; Yasunori Ito; Hiroyuki Higashiyama; Hirokazu Kanegane; Takeshi Futatani; Ichiro Kobayashi; Yoshiro Kamachi; Tatsuo Sakamoto; Ikuya Tsuge; Hiroshi Tanaka; Alison H Banham; Hans D Ochs; Toshio Miyawaki
Journal:  Clin Immunol       Date:  2007-10-03       Impact factor: 3.969

Review 5.  The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

Authors:  Eva d'Hennezel; Khalid Bin Dhuban; Troy Torgerson; Ciriaco A Piccirillo; Ciriaco Piccirillo
Journal:  J Med Genet       Date:  2012-05       Impact factor: 6.318

Review 6.  IPEX as a result of mutations in FOXP3.

Authors:  Hans J J van der Vliet; Edward E Nieuwenhuis
Journal:  Clin Dev Immunol       Date:  2007
  6 in total
  4 in total

1.  Absence of functional fetal regulatory T cells in humans causes in utero organ-specific autoimmunity.

Authors:  Eric J Allenspach; Laura S Finn; Mara H Rendi; Ahmet Eken; Akhilesh K Singh; Mohamed Oukka; Sean D Taylor; Matthew C Altman; Corinne L Fligner; Hans D Ochs; David J Rawlings; Troy R Torgerson
Journal:  J Allergy Clin Immunol       Date:  2017-03-16       Impact factor: 10.793

2.  A delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A case report.

Authors:  Ying Zhang; Hanmin Liu; Tao Ai; Wanmin Xia; Tingting Chen; Lei Zhang; Xiulan Luo; Yaping Duan
Journal:  Medicine (Baltimore)       Date:  2021-03-26       Impact factor: 1.817

Review 3.  Intrauterine IPEX.

Authors:  Magda Carneiro-Sampaio; Carlos Alberto Moreira-Filho; Silvia Yumi Bando; Jocelyne Demengeot; Antonio Coutinho
Journal:  Front Pediatr       Date:  2020-11-20       Impact factor: 3.418

4.  Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset

Authors:  Gülay Karagüzel; Recep Polat; Mehtap H Abul; Alper Han Cebi; Fazıl Orhan
Journal:  J Clin Res Pediatr Endocrinol       Date:  2021-05-28
  4 in total

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