Genetic cause of rare childhood immune disorders discovered

Scientists have pinpointed genetic changes that can leave children born with little to no immune defense against infection. In a new study of 11 affected individuals, researchers from Newcastle University, the Wellcome Sanger Institute, the Great North Children’s Hospital, and their collaborators were able to link mutations in the NUDCD3 gene to Severe Combined Immunodeficiency and Omenn syndrome—rare and life-threatening immunodeficiency disorders. These mutations prevented the normal development of diverse immune cells needed to combat different pathogens. The findings, published in Science Immunology, open opportunities for early diagnosis and intervention Read More