A new rare immune system disorder attributed to a mutation in the DOCK11 gene has been discovered
The University Hospital Virgen del Rocío in Seville and the Sant Joan de Déu Barcelona Children's Hospital · Sant Joan de Déu Research Institute have collaborated on international research that unveiled a rare genetic disease responsible for an immune system imbalance. The study has been published in the New England Journal of Medicine.
The disease develops as a result of a mutation in the DOCK11 gene, which triggers abnormalities in the cytoskeleton, the internal structure of cells responsible for their shape and movement. These cytoskeletal abnormalities cause an imbalance in the regulation of the immune system, leading patients to exhibit persistent inflammation and disorders in blood cell formation, among other severe health problems, from a very early age.
Previous studies on mouse models have already demonstrated the crucial role of the protein produced by DOCK11 in the development of B cells, a vital component of the immune system. Building on this knowledge, the team conducting this new study has successfully shown that B cells do not develop properly to some extent in individuals with the mutated DOCK11 gene. Furthermore, their observations reveal that another type of immune cell known as T lymphocytes become overactivated, leading to persistent inflammation in the body.
Thanks to this study, other patients with this rare immunological condition have been successfully diagnosed. Now that the disease has been identified, the scientific community is considering hematopoietic stem cell transplantation and gene correction through gene therapy as potential therapeutic options. However, before implementing these treatments, their effectiveness and safety must be confirmed through clinical trials.
*Source: Una mutación en el gen DOCK11 explica un trastorno raro en la regulación del sistema inmunitario
