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

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

2001 • 3,260 citations

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

2001 • 2,503 citations

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

2001 • 1,831 citations

JM2, encoding a fork head–related protein, is mutated in X-linked autoimmunity–allergic disregulation syndrome

2000 • 909 citations

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

2000 • 505 citations

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

1982 • 436 citations

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

2001 • 431 citations

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

2001 • 259 citations

THE WISKOTT-ALDRICH SYNDROME PROTEIN (WASP): Roles in Signaling and Cytoskeletal Organization

1999 • 240 citations

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome

2001 • 237 citations

Nuclear localization signals overlap DNA- or RNA-binding domains in nucleic acid-binding proteins

1995 • 211 citations

Cellular and molecular characterization of the scurfy mouse mutant.

1999 • 197 citations

The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

1990 • 195 citations

Cellular and Molecular Characterization of thescurfyMouse Mutant

1999 • 160 citations

Analysis of hepatocyte nuclear factor-3β protein domains required for transcriptional activation and nuclear targeting

1995 • 127 citations

X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3

2000 • 111 citations

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

2000 • 89 citations

A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy

1993 • 86 citations

Wiskott-Aldrich Syndrome

1963 • 81 citations

Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome

2001 • 79 citations

X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea.

1996 • 64 citations

Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters

1991 • 50 citations

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

1995 • 46 citations

Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters

1991 • 42 citations

Neonatal Diabetes Mellitus Associated with Severe Diarrhea, Hyperimmunoglobulin E Syndrome, and Absence of Islets of Langerhans

1995 • 35 citations

Congenital Diabetes Mellitus and Fatal Secretory Diarrhea in Two Infants

1991 • 33 citations

The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X Chromosome

1994 • 24 citations

Congenital permanent diabetes mellitus and celiac disease

1982 • 19 citations

[Neonatal hyperglycemia and diabetes mellitus].

1994 • 17 citations

Diabète néonatal vrai associé à une maladie auto-immune

1996 • 8 citations