Severe Combined Immunodeficiency (SCID) and Omenn syndrome are very rare and dangerous immunodeficiency disorders. These disorders need proper diagnosis and treatment as it increases the risk of death. But researchers from Newcastle University, the Wellcome Sanger Institute and other hospitals have found genetic mutations that leave babies with little to no immune system defense against infections. They have found a link between mutations in the NUDCD3 gene and the development of SCID and Omenn syndrome. These mutations stop the normal development of various immune cells that are needed to fight pathogens.Â
This study was published in Science Immunology. In this study, researchers involved 11 children with these immunodeficiency disorders from 4 families. 2 children of them had SCID and remaining 9 had Omenn syndrome. When researchers observed these children, they found that all of them had mutations that changed the functioning of NUDCD3 protein. Â
Researchers also studied cells of mice and these patients in detail. They found that NUDCD3 mutations disrupt a process known as V(D)J recombination. It is a very important process as it is essential for making diverse T cell receptors and antibodies that recognize and fight against various pathogens. Mice with this mutation showed milder immune system problems. On the other hand, humans with the same gene mutation experienced serious and life-threatening consequences. Only 2 of these patients survived after receiving a stem cell transplant. It clearly shows that early diagnosis and treatment are very important for these disorders. Â
Researchers say that early diagnosis of these serious disorders is very important as it reduces the risk of death. Previously, newborn screening tools could find T cell deficiency. But finding the exact genetic reason can help with early diagnosis and guide the choice of proper treatments.Â
The results of this study are very important as they can help healthcare professionals to diagnose some immunodeficiency disorders such as severe combined immunodeficiency (SCID) and Omen syndrome earlier. So, they can make some effective strategies and choose proper treatments to treat these patients. This study will help them save many lives by reducing the risk of death. Â
Reference Link:Â
Rui Chen et al, NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome, Science Immunology (2024). Â
