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

Pediatric Nephrology

Volumn 24, Issue 6, 2009, Pages 1181-1186

  Hashimura, Yuya ^a   Nozu, Kandai ^a   Kanegane, Hirokazu ^b   Miyawaki, Toshio ^b   Hayakawa, Akira ^a   Yoshikawa, Norishige ^c   Nakanishi, Koichi ^c   Takemoto, Minoru ^d   Iijima, Kazumoto ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOYAMA   (Japan)

^c WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^d CHIBA UNIVERSITY   (Japan)

Author keywords

FOXP3; Immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome; Minimal change nephrotic syndrome; Regulatory T cell

Indexed keywords

ANTIBIOTIC AGENT; CYCLOSPORIN; HEMOGLOBIN; IMMUNOGLOBULIN E; METHYLPREDNISOLONE; TRANSCRIPTION FACTOR FOXP3;

ARTICLE; ATOPIC DERMATITIS; CASE REPORT; CD4+ CD25+ T LYMPHOCYTE; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE EXACERBATION; DRUG MEGADOSE; ENTEROPATHY; FAILURE TO THRIVE; FLOW CYTOMETRY; GENE DELETION; GENE IDENTIFICATION; GENETIC ANALYSIS; HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; HYPERGLYCEMIA; IMMUNOGLOBULIN BLOOD LEVEL; INSULIN DEPENDENT DIABETES MELLITUS; IPEX SYNDROME; KIDNEY BIOPSY; LIPOID NEPHROSIS; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REGULATORY T LYMPHOCYTE; SEPSIS; VOMITING;

CD4-POSITIVE T-LYMPHOCYTES; CHILD, PRESCHOOL; CYCLOSPORINE; DNA; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; GENETIC DISEASES, X-LINKED; HUMANS; IMMUNOSUPPRESSIVE AGENTS; INTERLEUKIN-2 RECEPTOR ALPHA SUBUNIT; MALE; METHYLPREDNISOLONE; NEPHROTIC SYNDROME; POLYENDOCRINOPATHIES, AUTOIMMUNE; PROTEIN-LOSING ENTEROPATHIES; RECURRENCE; SEQUENCE ANALYSIS, DNA; T-LYMPHOCYTES, REGULATORY; TREATMENT OUTCOME;

EID: 67650283786     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1119-8     Document Type: Article

References (31)

1. Shalhoub RJ (1974) Pathogenesis of lipoid nephrosis: A disorder of T-cell function. Lancet 2:556-560
2. Ochs HD, Ziegler SF, Torgerson TR (2005) FOXP3 acts as a rheostat of the immune response. Immunol Rev 203:156-164
3. van der Vliet HJ, Nieuwenhuis EE (2007) IPEX as a result of mutations in FOXP3. Clin Dev Immunol 2007:89017
4. Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD, Pearce SH (2003) Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. J Clin Endocrinol Metab 88:6034-6039
5. Roncador G, Brown PJ, Maestre L, Hue S, Martínez-Torrecuadrada JL, Ling KL, Pratap S, Toms C, Fox BC, Cerundolo V, Powrie F, Banham AH (2005) Analysis of FOXP3 protein expression in human CD4 + CD25 + regulatory T cells at the single-cell level. Eur J Immunol 35:1681-1691
6. Ziegler SF (2006) FOXP3: Of mice and men. Annu Rev Immunol 24:209-226
7. Wildin RS, Smyk-Pearson S, Filipovich AH (2002) Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 39:537-545
8. Fuchizawa T, Adachi Y, Ito Y, Higashiyama H, Kanegane H, Futatani T, Kobayashi I, Kamachi Y, Sakamoto T, Tsuge I, Tanaka H, Banham AH, Ochs HD, Miyawaki T (2007) Developmental changes of FOXP3-expressing CD4 + CD25 + regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol 125:237-246
9. Li B, Samanta A, Song X, Furuuchi K, Iacono KT, Kennedy S, Katsumata M, Saouaf SJ, Greene MI (2006) FOXP3 ensembles in T-cell regulation. Immunol Rev 212:99-113
10. Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG (2006) Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest 116:1713-1722
11. Moudgil A, Perriello P, Loechelt B, Przygodzki R, Fitzerald W, Kamani N (2007) Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: An unusual cause of proteinuria in infancy. Pediatr Nephrol 22:1799-1802
12. Ellis D, Fisher SE, Smith WI Jr, Jaffe R (1982) Familial occurrence of renal and intestinal disease associated with tissue autoantibodies. Am J Dis Child 136:323-326
13. Kobayashi I, Shiari R, Yamada M, Kawamura N, Okano M, Yara A, Iguchi A, Ishikawa N, Ariga T, Sakiyama Y, Ochs HD, Kobayashi K (2001) Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). J Med Genet 38:874-876
14. Sakaguchi S, Ono M, Setoguchi R, Yagi H, Hori S, Fehervari Z, Shimizu J, Takahashi T, Nomura T (2006) Foxp3 + CD25 + CD4 + natural regulatory T cells in dominant self-tolerance and auto-immune disease. Immunol Rev 212:8-27
15. Ono M, Shimizu J, Miyachi Y, Sakaguchi S (2006) Control of autoimmune myocarditis and multiorgan inflammation by glucocorticoid-induced TNF receptor family-related protein(high), Foxp3-expressing CD25+ and CD25- regulatory T cells. J Immunol 176:4748-4756
16. Sakaguchi S, Yamaguchi T, Nomura T, Ono M (2008) Regulatory T cells and immune tolerance. Cell 133:775-787
17. Hardwicke J, Soothill JF, Squire JR, Holti G (1959) Nephrotic syndrome and pollen hypersensitivity. Lancet I:500-502
18. Wittig HJ, Goldman AS (1970) Nephrotic syndrome associated with inhaled allergens. Lancet I:542-543
19. Reeves WG, Cameron JS, Johansson SG, Ogg CS, Peters DK, Weller RO (1975) Seasonal nephrotic syndrome. Description and immunological findings. Clin Allergy 5:121-137
20. Yap HK, Yip WCL, Lee BW, Ho TF, Teo J, Aw SE, Tay JSH (1983) The incidence of atopy in steroid-responsive nephrotic syndrome: Clinical and immunological parameters. Ann Allergy 51:590-594
21. Yokoyama H, Kida H, Tani Y, Abe T, Tomosugi N, Koshino Y, Hattori N (1985) Immunodynamics of minimal change nephrotic syndrome in adults T and B lymphocyte subsets and serum immunoglobulin levels. Clin Exp Immunol 61:601-607
22. Goldman M, Hébert D, Geary DF (2002) Management of steroid-sensitive nephrotic syndrome in children with type 1 diabetes. Pediatr Nephrol 17:351-354
23. Kemper MJ, Meyer-Jark T, Lilova M, Müller-Wiefel DE (2003) Combined T- and B-cell activation in childhood steroid-sensitive nephrotic syndrome. Clin Nephrol 60:242-247
24. Shen Z, Chen L, Hao F, Wang G, Fan P, Liu Y(2008) Intron-1 rs3761548 is related to the defective transcription of Foxp3 in psoriasis through abrogating E47/c-Myb binding. J Cell Mol Med doi: 10.1111/ j.1582-4934.2008.00370.x
25. Park O, Grishina I, Leung PS, Gershwin ME, Prindiville T (2005) Analysis of the Foxp3/scurfin gene in Crohn's disease. Ann N Y Acad Sci 1051:218-228
26. Bassuny WM, Ihara K, Sasaki Y, Kuromaru R, Kohno H, Matsuura N, Hara T (2003) A functional polymorphism in the promoter/enhancer region of the FOXP3/scurfin gene associated with type 1 diabetes. Immunogenetics 55:149-156
27. Rubio-Cabezas O, Minton JA, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, Ellard S, Hattersley AT (2009) Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care 32:111-116
28. Faul C, Donnelly M, Merscher-Gomez S, Chang YH, Franz S, Delfgaauw J, Chang JM, Choi HY, Campbell KN, Kim K, Reiser J, Mundel P (2008) The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A. Nat Med 14:931-938
29. Takemoto M, He L, Norlin J, Patrakka J, Xiao Z, Petrova T, Bondjers C, Asp J, Wallgard E, Sun Y, Samuelsson T, Mostad P, Lundin S, Miura N, Sado Y, Alitalo K, Quaggin SE, Tryggvason K, Betsholtz C (2006) Large-scale identification of genes implicated in kidney glomerulus development and function. EMBO J 25:1160-1174
30. He L, Sun Y, Takemoto M, Norlin J, Tryggvason K, Samuelsson T, Betsholtz C (2008) The glomerular transcriptome and a predicted protein-protein interaction network. J Am Soc Nephrol 19:260-268
31. Takemoto M, Asker N, Gerhardt H, Lundkvist A, Johansson BR, Saito Y, Betsholtz C (2002) A new method for large scale isolation of kidney glomeruli from mice. Am J Pathol 161:799-805