Luis Ignacio González Granado

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. 

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.