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

Pediatric Nephrology

Volumn 30, Issue 7, 2015, Pages 1197-1202

  Sheikine, Yuri ^a   Woda, Craig B ^b   Lee, Pui Y ^b   Chatila, Talal A ^b   Keles, Sevgi ^b   Charbonnier, Louis Marie ^b   Schmidt, Birgitta ^b   Rosen, Seymour ^a,b   Rodig, Nancy M ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

FOXP3; Immune dysregulation; IPEX; Membranous glomerulonephritis; Renal injury

Indexed keywords

ALBUMIN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; INTERLEUKIN 2 RECEPTOR ALPHA; MYCOPHENOLIC ACID; PREDNISONE; TACROLIMUS; TRANSCRIPTION FACTOR FOXP3; FORKHEAD TRANSCRIPTION FACTOR; FOXP3 PROTEIN, HUMAN;

ALBUMIN BLOOD LEVEL; ARTICLE; CASE REPORT; DERMATITIS; DIARRHEA; DNA SEQUENCE; FAILURE TO THRIVE; GENE MUTATION; HEMATURIA; HUMAN; IMMUNE COMPLEX DEPOSITION; IMMUNOSUPPRESSIVE TREATMENT; INFANT; INTERSTITIAL NEPHRITIS; IPEX SYNDROME; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; MALE; PRIORITY JOURNAL; PROLIFERATIVE GLOMERULONEPHRITIS; PROTEINURIA; RASH; RECTUM HEMORRHAGE; SKIN BIOPSY; SYSTEMIC LUPUS ERYTHEMATOSUS; ADOLESCENT; AUTOIMMUNE DISEASE; BIOPSY; CHILD; FATALITY; GENETIC SCREENING; GENETICS; IMMUNOLOGY; KIDNEY; MUTATION; PATHOLOGY; PRESCHOOL CHILD; REGULATORY T LYMPHOCYTE; SKIN; STEM CELL TRANSPLANTATION; SYNDROME; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; AUTOIMMUNE DISEASES; BIOPSY; CHILD; CHILD, PRESCHOOL; FATAL OUTCOME; FORKHEAD TRANSCRIPTION FACTORS; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HUMANS; INFANT; KIDNEY; MALE; MUTATION; SKIN; STEM CELL TRANSPLANTATION; SYNDROME; T-LYMPHOCYTES, REGULATORY;

EID: 84929959029     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-015-3102-x     Document Type: Article

References (15)

1. Michels AW, Gottlieb PA (2010) Autoimmune polyglandular syndromes. Nat Rev Endocrinol 6:270–277
2. Powell BR, Buist NR, Stenzel P (1982) An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 100:731–737
3. An YF, Xu F, Wang M, Zhang ZY, Zhao XD (2011) Clinical and molecular characteristics of immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China. Scand J Immunol 74:304–309
4. Chatila TA, Blaeser F, Ho N, Lederman HM, Voulgaropoulos C, Helms C, Bowcock AM (2000) JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J Clin Invest 106:R75–81
5. 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
6. Bindl L, Torgerson T, Perroni L, Youssef N, Ochs HD, Goulet O, Ruemmele FM (2005) Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). J Pediatr 147:256–259
7. Heltzer ML, Choi JK, Ochs HD, Sullivan KE, Torgerson TR, Ernst LM (2007) A potential screening tool for IPEX syndrome. Pediatr Dev Pathol 10:98–105
8. Burroughs LM, Torgerson TR, Storb R, Carpenter PA, Rawlings DJ, Sanders J, Scharenberg AM, Skoda-Smith S, Englund J, Ochs HD, Woolfrey AE (2010) Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. J Allergy Clin Immunol 126:1000–1005
9. Patey-Mariaud de Serre N, Canioni D, Ganousse S, Rieux-Laucat F, Goulet O, Ruemmele F, Brousse N (2009) Digestive histopathological presentation of IPEX syndrome. Mod Pathol 22:95–102
10. 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
11. Moes N, Rieux-Laucat F, Begue B, Verdier J, Neven B, Patey N, Torgerson TT, Picard C, Stolzenberg MC, Ruemmele C, Rings EH, Casanova JL, Piloquet H, Biver A, Breton A, Ochs HD, Hermine O, Fischer A, Goulet O, Cerf-Bensussan N, Ruemmele FM (2010) Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. Gastroenterology 139:770–778
12. Otsubo K, Kanegane H, Kamachi Y, Kobayashi I, Tsuge I, Imaizumi M, Sasahara Y, Hayakawa A, Nozu K, Iijima K, Ito S, Horikawa R, Nagai Y, Takatsu K, Mori H, Ochs HD, Miyawaki T (2011) Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol 141:111–120
13. Hashimura Y, Nozu K, Kanegane H, Miyawaki T, Hayakawa A, Yoshikawa N, Nakanishi K, Takemoto M, Iijima K, Matsuo M (2009) Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Nephrol 24:1181–1186
14. Tsuda M, Torgerson TR, Selmi C, Gambineri E, Carneiro-Sampaio M, Mannurita SC, Leung PS, Norman GL, Gershwin ME (2010) The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. J Autoimmun 35:265–268
15. 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