Immunodeficiency 35
OMIM:611521Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | TYK2 |
|---|---|
| Reference transcript | NM_003331.4 |
| DNA Change | c.3318_3319insC |
| A.A. Change | P.Thr1106HisfsTer4 |
| Exon/Intron | exon 23 |
| Mutation Type | insertion |
| Reference | Kreins 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. |