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

Wiskott-Aldrich syndrome 2

OMIM:614493
Mode of inheritance:Multiple
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolWIPF1
Reference transcriptNM_003387.4
DNA Changec.1301C>G
A.A. Changep.Ser434X
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceLanzi 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.