Genetic cause of rare childhood immune disorders discovered Published on: 24 May 2024 Scientists have pinpointed genetic changes that can leave children born with little to no immune defence against infection. In a 麻豆传媒-led study of affected individuals, researchers 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 today in , and involving experts from 麻豆传媒, the Great North Children’s Hospital, the Wellcome Sanger Institute, and their collaborators, opens up opportunities for early diagnosis and intervention for this condition. Rare genetic disorders Severe Combined Immunodeficiency (SCID) and Omenn syndrome are both rare genetic disorders that leave children without a functional immune system and at risk of life-threatening infections. Without urgent treatment, such as stem cell transplants to replace the faulty immune system, many affected will not survive their first year. While newborn screening methods can flag T cell deficiency, knowledge of the specific genetic cause increases confidence in the diagnosis of SCID and informs the choice of curative therapy. Currently this remains out of reach for at least one in 10 affected families. In this new study, researchers studied 11 children across four families, two of whom had SCID while the other nine had Omenn syndrome. All had inherited mutations that disrupted the function of the NUDCD3 protein, which had not previously been linked to the immune system. Professor Sophie Hambleton, senior author of the study at 麻豆传媒 and practicing paediatric immunologist at the Great North Children's Hospital, said: “SCID and Omenn syndrome are devastating disorders, requiring complex and timely treatments. “The more we can understand about its underlying causes, the better we can look after affected babies. Our research is aimed at filling in the gaps so that families can achieve a molecular diagnosis while we continue learning more about how the immune system works in health and disease. “We are deeply grateful to the families whose invaluable participation in this study will help future generations.” Early diagnosis important Using detailed studies of patient-derived cells and mouse models, the team demonstrated that NUDCD3 mutations impair a crucial gene-rearranging process called V(D)J recombination, essential for generating the diverse T cell receptors and antibodies needed to recognise and fight different pathogens. While mice engineered with the same NUDCD3 mutations had milder immune problems, the human patients faced severe, life-threatening consequences. Two patients did survive, however, after receiving a stem cell transplant – reinforcing the importance of early diagnosis and intervention. , author of the study at the Wellcome Sanger Institute and science director at Open Targets, said: “For babies born with high-risk immunodeficiencies, early detection can mean the difference between life and death. “These diseases leave newborns essentially defenceless against pathogens that most of us can easily fend off. The identification of this new disease gene will help clinicians to make a prompt molecular diagnosis in affected patients, meaning they can receive life-saving treatments more quickly.” Reference: R. Chen, E. Lukianova et al. (2024) ‘NUDCD3 deficiency disrupts V(D)J recombination to cause SCID/Omenn syndrome.’ Science Immunology. DOI: 10.1126/sciimmunol.ade5705 Latest News Local knowledge can improve early warnings of glacial lake floods Local knowledge, improved evacuation preparedness and resilient mobile phone-based communication channels can enhance Early Warning Systems to reduce loss of life during glacial lake outburst floods. published on: 3 August 2026 Funding boost moves landmark cancer research centre a step closer A 拢1.25 million grant from the Wolfson Foundation to 麻豆传媒 has brought the Sir Bobby Robson Institute a significant step closer, giving a major boost to its fundraising campaign. published on: 3 August 2026 Statement on potential unauthorised data access Information about a potential unauthorised data access. published on: 30 July 2026 Facts and figures
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