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

Robert S. Wildin, Fred Ramsdell, Jane Peake, +13

Nature Genetics

Knockout MouseMetabolic SyndromeHuman EquivalentXenotransplantationGrowth Hormone +8

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity

Eleonora Gambineri, L Perroni, Laura Passerini, +22

Journal of Allergy and Clinical Immunology

Primary ImmunodeficiencyAutoimmune DiseaseDisease MechanismDisease SeverityImmunodeficiencies +13

Successful Use of the New Immune-suppressor Sirolimus in IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome)

L. Bindl, Troy R. Torgerson, L Perroni, +4

The Journal of Pediatrics

InflammationAutoimmune DiseaseImmunodeficienciesImmunologyPathology +10

Acidified Glycerol Lysis Test: a Screening Test for Spherocytosis

Alberto Zanella, Caitlin Rose Izzo, Paolo Rebulla, +3

British Journal of Haematology

Lipid AnalysisScreening TestBiochemistryMedicineConventional Tests +9

Functional type 1 regulatory T cells develop regardless of <i>FOXP3</i> mutations in patients with IPEX syndrome

Laura Passerini, Silvia Gregori, Eleonora Gambineri, +8

European Journal of Immunology

Forkhead Box P3Lymphocyte DevelopmentGeneticsImmunodeficienciesImmunology +24

Mechanistic Associations of a Mild Phenotype of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

Fabrizio De Benedetti, Antonella Insalaco, Antonella Diamanti, +10

Clinical Gastroenterology and Hepatology

Mechanistic AssociationsAutoimmune DiseaseDisease MechanismGenetic DisorderImmunodeficiencies +10

Immune Reconstitution and Recovery of FOXP3 (Forkhead Box P3)-Expressing T Cells After Transplantation for IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Syndrome

Hong Zhan, Jo Sinclair, Stuart Adams, +6

PEDIATRICS

Forkhead Box P3T-regulatory CellImmunologyPathologyX-linked Syndrome +19

Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity

Pietro Chiurazzi, Maurizio Genuardi, Libor Kozák, +9

American Journal of Medical Genetics

Wild-type FOXP3 is selectively active in CD4+CD25hi regulatory T cells of healthy female carriers of different FOXP3 mutations

Laura Passerini, Alicia N. McMurchy, Udo Baron, +11

Blood

Isochromosome not translocation in trisomy 21q21q

Marina Grasso, Maria Luisa Giovannucci Uzielli, M. Pierluigi, +3

Human Genetics

ChromatinCytogeneticsGeneticsTrisomy 21Q21qMolecular Biology +5