A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review

• Auteurs principaux: Peilin Wu (Auteur), Suqing Chen (Auteur), Bin Wu (Auteur), Junhong Chen (Auteur), Ge Lv (Auteur)
• Format: Livre
• Publié: Frontiers Media S.A., 2020-05-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Tyrosine kinase 2 (TYK2) deficiency was formerly defined in patients suffering from autosomal recessive hyperimmunoglobulin E syndrome (AR-HIES). In recent years, it was proposed that human TYK2 deficiency is probably not a common cause of the AR-HIES but a distinctive illness object. In the current...