A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. · Nature Genetics · 2001 · 3.4K citations

Life Sciences, Genetics, Immunology +13

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

Robert S. Wildin, Fred Ramsdell, Jane Peake et al. · Nature Genetics · 2001 · 1.9K citations

Medicine, Endocrinology, Pediatrics +17

FOXP3: Of Mice and Men

Steven F. Ziegler · Annual Review of Immunology · 2005 · 917 citations

Life Sciences, Genetics, Immunology +17

Defective regulatory and effector T cell functions in patients with FOXP3 mutations

Rosa Bacchetta · Journal of Clinical Investigation · 2006 · 514 citations · Full text

Life Sciences, Genetics, Immunology +17

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy

Berkley R. Powell, Neil R.M. Buist, Peter Stenzel · The Journal of Pediatrics · 1982 · 448 citations

Medicine, Endocrinology, Pediatrics +14