Researchers have shown that a mutant STAT3 protein causes autosomal dominant hyper-IgE syndrome by binding the normal STAT3 ...

New research shows how a mutant form of a protein named STAT3 causes a genetically dominant immunodeficiency. "Accordingly, this study provides vital insight into a signaling pathway essential in ...

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...