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 ...

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 ...

TWO inborn errors of the complement system of man have been well documented: hereditary deficiency of the serum inhibitor of the activated first component of complement (C′1a) and hereditary ...

Philadelphia and Gordonville, PA, August 12, 2025 – Researchers from Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ...

Iron deficiency anemia occurs when there are insufficient red blood cells due to a lack of iron. In some cases, iron deficiency anemia can be genetic, as people can pass genetic variations onto their ...

Given the heterogeneity and rarity of inborn errors of immunity (IEIs), management guidelines that deal with primary immunodeficiency as a whole are rare. The most recent general guideline, the ...

Researchers from Children's Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause ...

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 ...