Wiskott-Aldrich syndrome 2
OMIM:614493Mode of inheritance:Multiple
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | WIPF1 |
|---|---|
| Reference transcript | NM_003387.4 |
| DNA Change | c.1301C>G |
| A.A. Change | p.Ser434X |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S.A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med. 2012 Jan 16;209(1):29-34. |