Figure 1. Identification of TYK2 mutations and TYK2 deficiency.
(A) Pedigrees of the TYK2-deficient families. Square and circle represent male and female respectively. The probands (P1, P2, P3, P4 and P5) in the five families are indicated by an arrow. (B) and (C) Schematic diagram of TYK2 gene and its 23 coding exons (B), TYK2 protein and its different domains (Ferm, SH2, Pseudokinase and Kinase) (C). The positions of the TYK2 mutations of the five patients are indicated by black arrows or vertical line.
(D) Confirmation by Sanger sequencing of the TYK2 gene in the patients and their parents.
(E-H) Western blot analysis of TYK2 expression in P1, P2, P3 and P5. Representative images from 2-3 independent experiments.
(I-L) qRT-PCR analysis of TYK2 transcription in P1, P2 and P3. Data are derived from 2-3 independent experiments.