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

Immunodeficiency 35

OMIM:611521
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolTYK2
Reference transcriptNM_003331.4
DNA Changec.3318_3319insC
A.A. ChangeP.Thr1106HisfsTer4
Exon/Intronexon 23
Mutation Typeinsertion
ReferenceKreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS et al.Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24.