Publications by authors named "Julia G Reinke"
Article Synopsis
- NEMO is a key protein involved in regulating inflammation and immune responses, and mutations in the IKBKG gene can cause immunodeficiency.
- In three unrelated boys with distinct IKBKG mutations, researchers identified a new autoinflammatory condition, called NEMO deleted exon 5 autoinflammatory syndrome (NDAS), characterized by a protein variant that alters immune responses.
- This mutated protein leads to increased NF-κB activation and interferon production in certain immune cells, differing from the typical immune deficiency associated with other IKBKG mutations.
