X-linked autoimmunity-allergic dysregulation syndrome is a recessive disorder caused by mutations of the FOXP3 gene. It is characterized by severe diarrhea, type 1 diabetes and dermatitis. Other autoimmune phenomena may be present including hypothyroidism, hemolytic anemia, thrombocytopenia, lyphadenopathy, hepatitis, and nephritis.
1. |
Powell BR et al. (1982) An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. |
2. |
d'Hennezel E et al. (2012) The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. |
4. |
Baud O et al. (2001) Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. |
5. |
None (2001) Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse. |
6. |
Bennett CL et al. (2000) X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. |
7. |
Goulet OJ et al. (1998) Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. |
8. |
Roberts J et al. () Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans. |
9. |
Satake N et al. (1993) A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy. |
10. |
Meyer B et al. () [2 cases of neonatal diabetes]. |
11. |
Seidman EG et al. (1990) Successful treatment of autoimmune enteropathy with cyclosporine. |
12. |
Jonas MM et al. (1991) Congenital diabetes mellitus and fatal secretory diarrhea in two infants. |
13. |
Dodge JA et al. (1977) Congenital absence of islets of Langerhans. |
14. |
Eisenbarth GS et al. (2004) Autoimmune polyendocrine syndromes. |
15. |
Owen CJ et al. (2003) Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. |
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Levy-Lahad E et al. (2001) Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome. |
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Brunkow ME et al. (2001) Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. |
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Bennett CL et al. (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. |
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Wildin RS et al. (2001) X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. |
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Chatila TA et al. (2000) JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. |
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Ferguson PJ et al. (2000) Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. |
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Clark LB et al. (1999) Cellular and molecular characterization of the scurfy mouse mutant. |
23. |
Lyon MF et al. (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. |
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OMIM.ORG article Omim 304790 |