Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

OMIM:304790
Mode of inheritance:X-linked recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolFOXP3
Reference transcriptNM_001114377.1
DNA Changec.1113G>T
A.A. Changep.Phe371Cys
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceBaud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D, Dupuis-Girod S, Cerf-Bensussan N, Cavazzana-Calvo M, Brousse N, Fischer A, Casanova JL.Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation.
N Engl J Med. 2001 Jun 7;344(23):1758-62.