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

Journal of Medical Genetics

Volumn 39, Issue 8, 2002, Pages 537-545

  Wildin, R S ^a   Smyk Pearson, S ^a   Filipovich, A H ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AUTOIMMUNE DISEASE; CASE REPORT; CHILD; CLINICAL EXAMINATION; ENTEROPATHY; GENE MUTATION; HUMAN; IMMUNOREGULATION; IPEX SYNDROME; MULTIPLE ENDOCRINE ADENOMATOSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SYNDROME DELINEATION; X CHROMOSOME LINKAGE;

EID: 0036346861     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.8.537     Document Type: Review

References (45)

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2. The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome
3. Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse
4. CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse
5. Cellular and molecular characterization of the scurfy mouse mutant
6. The murine mutation scurfy (sf) results in an antigen-dependent lymphoproliferative disease with altered T cell sensitivity
7. Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes
8. The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome
9. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
10. Scurfin (foxp3) acts as a repressor of transcription and regulates t cell activation
11. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
12. X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp 11.23-Xq 13.3
13. Manifestations and linkage analysis in X-linked Autoimmunity-immunodeficiency syndrome
14. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
15. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
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