Rare Genetic Mutation Linked to Life-Threatening Immune Crisis

Researchers identified a case where a C9orf72 genetic expansion—already known to cause neurological disease—triggered systemic capillary leak syndrome, a dangerous condition where fluid leaks uncontrollably from blood vessels into tissues. The finding could reshape how doctors screen and treat patients carrying this mutation, potentially preventing severe complications.

Originaltitel: Systemic Capillary Leak Syndrome With Cerebral Involvement in a <i>C9orf72</i> Expansion Carrier Case Report and Review of the Literature