Óscar de la Calle-Martín

Severe combined immunodeficiency due to ADA enzyme deficiency is a rare disease that, without treatment, usually causes death within the first two years of life. These "bubble children" are currently treated with a bone marrow transplant or with injections that aim to restore, to the extent possible, the function of this enzyme. Now, an international team presents the results of a gene therapy administered to 62 children with the disease between 2012 and 2019. The therapy was effective in 95% of cases and did not cause serious complications, according to the authors, whose work is published in the journal NEJM. 

The Karolinska Institute has awarded the Nobel Prize in Medicine or Physiology to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi for describing how the immune system is regulated so as not to harm us. His groundbreaking discoveries on peripheral immune tolerance have spurred the development of new treatments for cancer and autoimmune diseases.

An antibody therapy is able to restore the immune system of elderly mice to a more youthful state. The method, published in the journal Nature, rebalances blood cell production and reduces age-related immune decline. Preclinical and clinical studies are needed to determine whether this approach could be feasible in humans. 
 

A study has analysed more than 100 environmental factors and their impact on the immune response. After studying about a thousand volunteers, its conclusions are that smoking is the factor that causes the most alterations in defences. While some changes are transient, others may remain for years after quitting. The results are published in the journal Nature.

A study in mice has found that high doses of the sweetener sucralose can reduce the immune response and, under certain laboratory conditions, alter its action against infections or tumours. The results are published in the journal Nature.

Bubble boy syndrome is a very serious condition caused by combined immunodeficiency. It is sometimes caused by certain mutations in the gene that codes for the Artemis protein. A phase I-II clinical trial has tested a gene therapy that adds a correct copy of the gene. The results are published in the journal NEJM.