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Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
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  1. R S Wildin1,
  2. S Smyk-Pearson1,
  3. A H Filipovich2
  1. 1Department of Molecular and Medical Genetics, Oregon Health Sciences University, Mailcode MP350, 3181 SW Sam Jackson Park Road, Portland, OR 97201-3098, USA
  2. 2Division of Hematology/Oncology, Children’s Hospital Medical Center, Cincinnati, OH 45229-3039, USA
  1. Correspondence to:
 Dr R S Wildin, 6140 SW 41st Avenue, Portland, OR 97221-3344, USA;
 wild{at}alum.mit.edu

Abstract

Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lack of working regulatory T cells. We review published reports regarding the genetics, clinical features, immunology, pathology, and treatment of IPEX. We also report three new patients who were treated with long term immunosuppression, followed by bone marrow transplantation in two. IPEX can be differentiated from other genetic immune disorders by its genetics, clinical presentation, characteristic pattern of pathology, and, except for high IgE, absence of substantial laboratory evidence of immunodeficiency. While chronic treatment with immunosuppressive drugs may provide temporary benefit for some patients, it does not cause complete remission. Remission has been observed with bone marrow transplantation despite incomplete engraftment, but the long term outcome is uncertain.

  • autoimmune
  • polyendocrinopathy
  • enteropathy
  • IPEX syndrome
  • IPEX syndrome, immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome
  • T1DM, type 1 diabetes mellitus
  • CSA, cyclosporin A
  • BMT, bone marrow transplant
  • GvHD, graft v host disease
  • EBV, Epstein-Barr virus
  • CMV, cytomegalovirus
  • TCR, T cell receptor
  • NFAT, nuclear factor of activated T cells
  • AIE, X linked autoimmune enteropathy

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