A team of researchers from Newcastle University, the Wellcome Sanger Institute, the Great North Children’s Hospital, and their collaborators have identified genetic variations in the NUDCD3 gene as the cause of Severe Combined Immunodeficiency (SCID) and Omenn syndrome in children.
In a recent study, the researchers examined the cases of 11 children from four families, six of whom were diagnosed with SCID and five with Omenn syndrome. All the children had inherited mutations that impaired the function of the NUDCD3 protein, which was previously unknown to play a role in the immune system.
SCID and Omenn syndrome are rare and potentially life-threatening Immunology disorders that leave children with little to no immune defense against infections. These conditions can lead to severe and recurrent infections, which, if left untreated, can be fatal. While newborn screening methods can detect T cell deficiencies, a definitive diagnosis and appropriate treatment depend on identifying the specific genetic cause.
The discovery of the NUDCD3 gene mutations offers opportunities for early diagnosis and intervention for these disorders. Currently, at least one in ten affected families lack access to this crucial information, which can significantly impact their child’s treatment and prognosis.
The study, published in Science Immunology, highlights the importance of continued research into the genetic basis of rare immune disorders to improve diagnosis, treatment, and ultimately, the lives of affected children.
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1. Source: Coherent Market Insights, Public sources, Desk research
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