IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena

Current Opinion in Pediatrics

Volumn 13, Issue 6, 2001, Pages 533-538

  Bennett, C L ^a   Ochs, H D ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; WISKOTT ALDRICH SYNDROME PROTEIN;

ANEMIA; AUTOIMMUNE DISEASE; BLEEDING DISORDER; BONE MARROW TRANSPLANTATION; CARBOXY TERMINAL SEQUENCE; CHROMOSOME XP; CLINICAL FEATURE; DIARRHEA; ECZEMA; ENDOCRINE DISEASE; ENTEROPATHY; GENE MAPPING; GENE MUTATION; IMMUNE DEFICIENCY; IPEX SYNDROME; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; REVIEW; SEX DIFFERENCE; THROMBOCYTOPENIA; X CHROMOSOMAL INHERITANCE; X LINKED AGAMMAGLOBULINEMIA;

ANIMALS; BONE MARROW TRANSPLANTATION; DNA-BINDING PROTEINS; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; LINKAGE (GENETICS); MICE; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; PROTEIN-LOSING ENTEROPATHIES; SEQUENCE ALIGNMENT; SYNDROME; X CHROMOSOME;

EID: 0035675798     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200112000-00007     Document Type: Review

References (33)

1. X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3
2. Manifestations and linkage analysis in X-linked autoimmunity- immunodeficiency syndrome
3. The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X chromosome
4. 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
5. Disruption of a novel forkhead/winged-helix protein, scurfin, results in the rapidly fatal lymphoproliferative disorder of the scurfy mutant mouse
6. 2 Cases of neonatal diabetes
7. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy
8. A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy
9. Combination therapy with tacrolimus and betamethasone for a patient with X-linked auto-immune enteropathy
10. Congenital permanent diabetes mellitus and celiac disease
11. Congenital diabetes mellitus and fatal secretory diarrhea in two infants
12. Neonatal hyperglycemia and diabetes mellitus
13. Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans
14. Neonatal diabetes mellitus associated with an autoimmune disease
15. X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhea
16. X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhea
17. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
18. Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome
19. An X-linked T cell activation syndrome maps near the Wiskott-Aldrich locus Xp11.2: Diarrhea, respiratory infections, autoimmune disease and endocrinopathies in the absence of platelet defects
20. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
21. The Wiskott-Aldrich syndrome
22. The Wiskott-Aldrich syndrome protein (WASP): Roles in signaling and cytoskeletal organization
23. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
24. Interaction of Sp1 with the human gamma globin promoter: Binding and transactivation of normal and mutant promoters
25. A syndrome of X-linked thrombocytopenia and thalassemia is due to a mutation in the transcription factor GATA-1
26. Cellular and molecular characterization of the scurfy mouse mutant
27. The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome
28. The Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
29. Mutations in the novel fork-head/winged-helix protein Scurfin cause neonatal diabetes, enteropathy, thrombocytopenia, and endocrinopath syndrome, the human equivalent of the scurfy mouse
30. Analysis of hepatocyte nuclear factor-3 beta protein domains required for transcriptional activation and nuclear targeting
31. Nuclear localization signals overlap DNA- or RNA-binding domains in nucleic acid-binding proteins
32. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation
33. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA->AAUGAA) leads to the IPEX syndrome