Literature DB >> 16371377

Clinical and molecular findings in IPEX syndrome.

A K Myers1, L Perroni, C Costigan, W Reardon.   

Abstract

IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are reported.

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Year:  2006        PMID： 16371377      PMCID： PMC2083080          DOI： 10.1136/adc.2005.078287

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

Review 1.  Autoimmune polyendocrine syndromes.

Authors:  George S Eisenbarth; Peter A Gottlieb
Journal:  N Engl J Med       Date:  2004-05-13       Impact factor: 91.245

2.  The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Authors:  C L Bennett; J Christie; F Ramsdell; M E Brunkow; P J Ferguson; L Whitesell; T E Kelly; F T Saulsbury; P F Chance; H D Ochs
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

3.  JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.

Authors:  T A Chatila; F Blaeser; N Ho; H M Lederman; C Voulgaropoulos; C Helms; A M Bowcock
Journal:  J Clin Invest       Date:  2000-12       Impact factor: 14.808

Review 4.  Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

Authors:  R S Wildin; S Smyk-Pearson; A H Filipovich
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

5.  X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Authors:  R S Wildin; F Ramsdell; J Peake; F Faravelli; J L Casanova; N Buist; E Levy-Lahad; M Mazzella; O Goulet; L Perroni; F D Bricarelli; G Byrne; M McEuen; S Proll; M Appleby; M E Brunkow
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330
  5 in total
  16 in total

1.  Genes mediating environment interactions in type 1 diabetes.

Authors:  Erik Biros; Margaret A Jordan; Alan G Baxter
Journal:  Rev Diabet Stud       Date:  2006-02-10

Review 2.  Laboratory diagnosis of primary immunodeficiencies.

Authors:  Bradley A Locke; Trivikram Dasu; James W Verbsky
Journal:  Clin Rev Allergy Immunol       Date:  2014-04       Impact factor: 8.667

3.  FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Authors:  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; Gil Atzmon; Benjamin Glaser; Louis H Philipson; Siri Atma W Greeley
Journal:  Pediatr Diabetes       Date:  2017-11-29       Impact factor: 4.866

4.  Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Authors:  D Zennaro; E Scala; D Pomponi; E Caprini; D Arcelli; E Gambineri; G Russo; A Mari
Journal:  Clin Exp Immunol       Date:  2012-01       Impact factor: 4.330

5.  Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.

Authors:  David T Okou; Kajari Mondal; William A Faubion; Lisa J Kobrynski; Lee A Denson; Jennifer G Mulle; Dhanya Ramachandran; Yuning Xiong; Phyllis Svingen; Viren Patel; Promita Bose; Jon P Waters; Sampath Prahalad; David J Cutler; Michael E Zwick; Subra Kugathasan
Journal:  J Pediatr Gastroenterol Nutr       Date:  2014-05       Impact factor: 2.839

Review 6.  FOXP3: genetic and epigenetic implications for autoimmunity.

Authors:  Hiroto Katoh; Pan Zheng; Yang Liu
Journal:  J Autoimmun       Date:  2013-01-11       Impact factor: 7.094

7.  Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy.

Authors:  Asha Moudgil; Paige Perriello; Brett Loechelt; Ronald Przygodzki; Wendy Fitzerald; Naynesh Kamani
Journal:  Pediatr Nephrol       Date:  2007-07-13       Impact factor: 3.714

Review 8.  T cell-mediated host immune defenses in the lung.

Authors:  Kong Chen; Jay K Kolls
Journal:  Annu Rev Immunol       Date:  2013       Impact factor: 28.527

Review 9.  Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.

Authors:  D Moraes-Vasconcelos; B T Costa-Carvalho; T R Torgerson; H D Ochs
Journal:  J Clin Immunol       Date:  2008-02-09       Impact factor: 8.317

10.  Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Authors:  Federica Barzaghi; Laura Passerini; Rosa Bacchetta
Journal:  Front Immunol       Date:  2012-07-31       Impact factor: 7.561
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