Disorders

IPEX Syndrome

Synonym(s): Autoimmunity-Immunodeficiency Syndrome, X-Linked, Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked Syndrome, X-Linked Autoimmunity-Allergic Dysregulation Syndrome (XLAAD), X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction and Diarrhea (XPID)

GeneReview OMIM

Gene	Locus	Protein
FOXP3	Xp11.23	Forkhead box protein P3

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Protein expression
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA	• Protein expression
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.