Publications by authors named "Carla Martin Cotazar"
J Allergy Clin Immunol
October 2023
Article Synopsis
- Inborn errors of immunity (IEI) are genetic disorders that make individuals more vulnerable to infections, autoimmune diseases, and cancer, but many cases lack a known genetic cause.
- Researchers studied a patient with an IEI and found a specific mutation in the ezrin (EZR) gene that negatively affected immune function.
- The study revealed that the mutation led to a dysfunction in immune cells, particularly resulting in a deficiency of B cells and other immune components, identifying ezrin deficiency as a new genetic cause for B-cell deficiencies.
