A study led by the Sant Pau Research Institute identifies a new primary immunodeficiency
An international multicenter study, led by the Sant Pau Research Institute, has identified a new primary immunodeficiency, a genetic disease that affects both cellular and humoral immunity. This study, published in the ‘Journal of Allergy and Clinical Immunology’, reveals that a mutation in the ezrin gene compromises immunological function by decreasing calcium signaling. This discovery provides new perspectives to understand and address this kind of pathology, especially in contexts such as the covid pandemic. In addition, it also highlights the difficulties in the vaccine response in cancer patients treated with immunosuppressants or people who have undergone a bone marrow transplant.
Primary immunodeficiencies and susceptibility to infections, autoimmunity and cancer
Primary immunodeficiencies are a group of more than 500 genetic diseases that cause quantitative or functional defects in different components of the immune system. These pathologies increase susceptibility to infections, autoimmunity and cancer.
The mutation in the EZR gene and its impact on immunological function
The study details the case of a patient with an unknown primary immunodeficiency, in which the researchers identified a mutation in the EZR gene, responsible for coding the ezrin protein. This mutation involves the substitution of the amino acid threonine for alanine at position 129. Ezrin is a key protein in the connection process between the plasma membrane and the cytoskeleton, essential for an efficient immune response. The mutation discovered decreases intracellular calcium signaling and causes an alteration in the function of ezrin, affecting multiple agents of the immune system and compromising its ability to defend the body against infection and disease.
The implications of the discovery and the difficulties in vaccine response
Those responsible for the study point out that this discovery provides new perspectives for understanding and addressing immunological deficiencies. In addition, it highlights the difficulties in vaccine response in cancer patients after immunomodulatory treatments or hematopoietic progenitor transplants. During the pandemic, the vulnerability of certain populations has been evidenced, such as the elderly, pregnant women and chronic patients, especially cancer patients, who have a more vulnerable immune system. Likewise, the study contributes to improving the diagnosis and treatment of frail patients and to a better understanding of the mechanisms involved in the process of immunological senescence.
References
1. ‘Journal of Allergy and Clinical Immunology’
