Literature DB >> 17629750

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

Asha Moudgil1, Paige Perriello, Brett Loechelt, Ronald Przygodzki, Wendy Fitzerald, Naynesh Kamani.   

Abstract

We report on a 6-month-old child presenting with chronic diarrhea, failure to thrive, eczema, autoimmune hemolytic anemia (AIHA), insulin-dependent diabetes mellitus (IDDM), hypoalbuminemia, and proteinuria. Renal biopsy showed membranous glomerulonephritis. A diagnosis of Immunodysregulation, polyendocrinopathy, enteropathy, x-linked (IPEX) syndrome was subsequently confirmed by DNA analysis, which demonstrated the presence of a mutation in exon 2 of the FOXP3 gene (303-304 del TT). Proteinuria secondary to membranous glomerulonephritis is a novel feature of IPEX syndrome. Membranous glomerulonephritis went into remission after the patient had received hematopoietic stem cell transplantation (HSCT).

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Year:  2007        PMID： 17629750     DOI： 10.1007/s00467-007-0532-0

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


  22 in total

1.  Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome.

Authors:  K G Lucas; D Ungar; M Comito; M Bayerl; B Groh
Journal:  Bone Marrow Transplant       Date:  2006-11-20       Impact factor: 5.483

2.  X-linked lymphoreticular disease in the scurfy (sf) mutant mouse.

Authors:  V L Godfrey; J E Wilkinson; L B Russell
Journal:  Am J Pathol       Date:  1991-06       Impact factor: 4.307

3.  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

4.  Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).

Authors:  Lutz Bindl; Troy Torgerson; Lucia Perroni; Nelly Youssef; Hans D Ochs; Olivier Goulet; Frank M Ruemmele
Journal:  J Pediatr       Date:  2005-08       Impact factor: 4.406

5.  Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX).

Authors:  I Kobayashi; R Shiari; M Yamada; N Kawamura; M Okano; A Yara; A Iguchi; N Ishikawa; T Ariga; Y Sakiyama; H D Ochs; K Kobayashi
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

6.  A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy.

Authors:  I Kobayashi; K Imamura; M Yamada; M Okano; A Yara; S Ikema; N Ishikawa
Journal:  Clin Exp Immunol       Date:  1998-03       Impact factor: 4.330

Review 7.  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

Review 8.  Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.

Authors:  B G Cooperstone; A Friedman; B S Kaplan
Journal:  Am J Med Genet       Date:  1993-08-15

Review 9.  Nephrotic syndrome in the 1st year of life.

Authors:  R Habib
Journal:  Pediatr Nephrol       Date:  1993-08       Impact factor: 3.714

10.  Glomerular basement membrane abnormalities in infants with heavy proteinuria.

Authors:  K P Mehta; U S Ali; A R Chitale; U Jha; S Khubchandani
Journal:  Pediatr Nephrol       Date:  1993-08       Impact factor: 3.714
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  16 in total

1.  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

2.  A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Authors:  Keun Wook Bae; Bo Eun Kim; Jin-Ho Choi; Joo Hoon Lee; Young Seo Park; Gu-Hwan Kim; Han Wook Yoo; Jong Jin Seo
Journal:  Eur J Pediatr       Date:  2011-10-07       Impact factor: 3.183

3.  Failure of regulation results in an amplified oxidation burst by neutrophils in children with primary nephrotic syndrome.

Authors:  R Bertelli; A Trivelli; A Magnasco; M Cioni; M Bodria; A Carrea; G Montobbio; G Barbano; G M Ghiggeri
Journal:  Clin Exp Immunol       Date:  2010-05-19       Impact factor: 4.330

4.  Egr2 and Egr3 in regulatory T cells cooperatively control systemic autoimmunity through Ltbp3-mediated TGF-β3 production.

Authors:  Kaoru Morita; Tomohisa Okamura; Mariko Inoue; Toshihiko Komai; Shuzo Teruya; Yukiko Iwasaki; Shuji Sumitomo; Hirofumi Shoda; Kazuhiko Yamamoto; Keishi Fujio
Journal:  Proc Natl Acad Sci U S A       Date:  2016-11-30       Impact factor: 11.205

5.  FOXP3 exon 2 controls Treg stability and autoimmunity.

Authors:  Jianguang Du; Qun Wang; Shuangshuang Yang; Si Chen; Yongyao Fu; Sabine Spath; Phillip Domeier; David Hagin; Stephanie Anover-Sombke; Maya Haouili; Sheng Liu; Jun Wan; Lei Han; Juli Liu; Lei Yang; Neel Sangani; Yujing Li; Xiongbin Lu; Sarath Chandra Janga; Mark H Kaplan; Troy R Torgerson; Steven F Ziegler; Baohua Zhou
Journal:  Sci Immunol       Date:  2022-06-24

6.  Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Authors:  Yuya Hashimura; Kandai Nozu; Hirokazu Kanegane; Toshio Miyawaki; Akira Hayakawa; Norishige Yoshikawa; Koichi Nakanishi; Minoru Takemoto; Kazumoto Iijima; Masafumi Matsuo
Journal:  Pediatr Nephrol       Date:  2009-02-03       Impact factor: 3.714

Review 7.  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

8.  Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

Authors:  Oscar Rubio-Cabezas; Jayne A L Minton; Richard Caswell; Julian P Shield; Dorothee Deiss; Zdenek Sumnik; Amely Cayssials; Mathias Herr; Anja Loew; Vaughan Lewis; Sian Ellard; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2008-10-17       Impact factor: 17.152

9.  Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.

Authors:  Yuri Sheikine; Craig B Woda; Pui Y Lee; Talal A Chatila; Sevgi Keles; Louis-Marie Charbonnier; Birgitta Schmidt; Seymour Rosen; Nancy M Rodig
Journal:  Pediatr Nephrol       Date:  2015-04-25       Impact factor: 3.714

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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