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ANI Washington, May 25 Researchers have identified specific genetic changes that can result in newborns having little to no immune protection against illness. Researchers from Newcastle University, the Wellcome Sanger Institute, the Great North Children’s Hospital, and their collaborators were able to connect mutations in the NUDCD3 gene to rare and potentially fatal immunodeficiency disorders called Omenn syndrome1 and Severe Combined Immunodeficiency in a recent study involving 11 affected individuals. The normal development of the variety of immune cells required to fight various infections was impeded by these mutations2.

The results, which were released in Science Immunology, present potential for this condition’s early detection and treatment. 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 1 in 10 affected families. In this new study, researchers from Newcastle University, the Wellcome Sanger Institute and their collaborators studied 11 children across.

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