Scientists identify genetic cause of rare, life-threatening immunodeficiency disorders in children

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Scientists identify genetic cause of rare, life-threatening immunodeficiency disorders in children
GeneticImmunodeficiencyCell
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Scientists have pinpointed genetic changes that can leave children born with little to no immune defence against infection.

Jun 3 2024Wellcome Sanger Institute

The findings, published today in Science Immunology, open opportunities for early diagnosis and intervention for this condition. 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.

Using detailed studies of patient-derived cells and mouse models, the team demonstrated that NUDCD3 mutations impair a crucial gene-rearranging process called VJ recombination, essential for generating the diverse T cell receptors and antibodies needed to recognize and fight different pathogens.

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