Washington [US], Researchers have identified specific genetic changes that result in newborns having little or no immune protection against the disease. Researchers at Newcastle University, the Wellcome Sanger Institute, Grea North Children's Hospital and their colleagues were able to link the mutation. A recent study involving 11 affected individuals linked the NUDCD3 gene to rare and potentially fatal immunodeficiency disorders called Omen syndrome1 and severe combined immunodeficiency. The normal development of different types of immune cells needed to fight various infections was disrupted due to these mutations. The results, which were released in Science Immunology, offer potential for early detection and treatment of this condition.Both severe combined immunodeficiency (SCID) and Omen syndrome are rare. Genetic disorders that leave children without a functional immune system and put them at risk for life-threatening infections. Without immediate treatment, such as stem cell transplantation to replace the defective immune system, many affected will not survive past their first year, while newborn screening methods can flag T cell deficiency, knowledge of the specific genetic cause of SCID. Increases confidence in and informs diagnosis. Selection of curative therapy. Currently it is beyond the reach of at least 1 in 10 affected families. In this new study, researchers from Newcastle University, the Wellcome Saenz Institute and their colleagues studied 11 children from four families, two of whom had SCID while the other nine had Omen syndrome., All had inherited mutations that disrupted the function of the NUDCD3 protein, which had not previously been linked to the immune system. Using detailed studies of patient-derived cells and mouse models, Chai demonstrated that NUDCD3 mutations impair an important gene-rearrangement process called V. (D) J recombination is necessary to generate the diverse T cell receptors and antibodies needed to recognize and fight different pathogens. While mice engineered with the same NUDCD3 mutation had mild immune problems, human patients had severe , faced life-threatening consequences. However, two patients survive after receiving stem cell transplants – reinforcing the importance of early diagnosis and intervention Dr. Gosia Trynka, author of the study and science director of Open Targets at the Wellcome Sanger Institute, said: “With high blood pressure For babies born with immune deficiencies, early detection can mean the difference between life and death. These diseases leave newborns essentially helpless against pathogens that most of us would otherwise avoid. Can.The identification of this new disease gene will help physicians make quicker molecular diagnoses in affected patients, meaning they can receive life-saving treatment more quickly, said the study's senior author, based at Newcastle University and Children's at Great North Children's Hospital. Medical immunologist Professor Sophie Hambleton said: “SCID and Omen syndrome are devastating disorders that require timely, complex treatment. The more we understand about their underlying causes, the better we will be able to care for affected babies.” Our research aims to fill the gap so that families can obtain molecular diagnoses while we continue to learn more about how the immune system works in health and disease. Partnership will help future generations."