A single treatment with a CRISPR-Cas9 based gene editing therapy is enough to replace the daily medication of patients with hereditary angioedema (HAE), a condition characterized by severe, painful ...

Hereditary angioedema (HAE) is a rare, autosomal dominant disorder defined by episodic, potentially life‐threatening swellings that can affect the skin, gastrointestinal tract, and upper airways.

Researchers from Nijmegen and Newcastle have discovered a new genetic mutation leading to severe combined immune deficiency disorder (SCID). It's the first time a mutation in the proteasome, a ...

This Review reports on a series of recent discoveries that have added to the characterization of the molecular and cellular basis of primary immunodeficiencies (PIDs) in humans. A total of more than ...

In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's ...

Hereditary angioedema (HAE) is a rare genetic disorder that causes episodes of severe swelling throughout your body. It is caused by abnormal immune responses. But unlike allergic swelling, HAE is not ...