Inborn errors of immunity (IEI) are a group of rare heterogeneous diseases. Currently, more
than 400 monogenetic IEI have been identified and increasingly a genetic diagnosis can be …

Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …

SH2 (Src Homology 2) domains are among the best characterized and most studied protein-
protein interaction (PPIs) modules able to bind and recognize sequences presenting a …

Establishing both central and peripheral tolerance requires the appropriate TCR signaling
strength to discriminate self‐from agonist‐peptide bound to self MHC molecules. ZAP70, a …

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
is a rare inborn immune error characterized by a triad of chronic mucocutaneous candidiasis …

Autoimmune thyroid disease (AITD) is a common autoimmune disease. In a GWAS meta-
analysis of 110,945 cases and 1,084,290 controls, 290 sequence variants at 225 loci are …

Introduction ZAP-70, a protein tyrosine kinase recruited to the T cell receptor (TCR), initiates
a TCR signaling cascade upon antigen stimulation. Mutations in the ZAP70 gene cause a …

Abstract Context ZAP-70 (zeta-chain-associated protein of 70 kDa), serving as a critical
regulator for T cell antigen receptor signaling, represents an attractive therapeutic target for …

Alterations in both the expression and function of the non-receptor tyrosine kinase Zap70
are associated with numerous human diseases including immunodeficiency, autoimmunity …

T cells act as the puppeteers in the adaptive immune response, and their dysfunction leads
to the initiation and progression of pathological conditions. During their lifetime, T cells …