Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
OMIM:304790Mode of inheritance:X-linked recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | FOXP3 |
|---|---|
| Reference transcript | NM_001114377.1 |
| DNA Change | c.1113G>T |
| A.A. Change | p.Phe371Cys |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Baud 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. |