Researchers have made a significant breakthrough in understanding why some children are born with little to no protection against infections.
A team from Newcastle University, the Wellcome Sanger Institute, the Great North Children’s Hospital, and other collaborators have identified mutations in the NUDCD3 gene, which are linked to severe immune disorders such as Severe Combined Immunodeficiency (SCID) and Omenn syndrome.
These rare and potentially fatal conditions prevent the development of a functional immune system, leaving affected children highly vulnerable to infections.
Published in Science Immunology, the study involved 11 children from four families, shedding light on the genetic underpinnings of these disorders. The findings could lead to early diagnosis and lifesaving interventions.
SCID and Omenn syndrome are characterized by a complete lack of immune defense, putting children at risk of life-threatening infections from early infancy.
In the absence of a timely intervention, such as a stem cell transplant, the prognosis is grim, with many children not surviving past their first year.
Traditionally, newborn screening methods can detect T cell deficiencies, but pinpointing the exact genetic cause is crucial for confirming the diagnosis of SCID and deciding on the best treatment approach.
Unfortunately, for about 10% of affected families, the specific genetic cause remains unidentified.
The collaborative research focused on the NUDCD3 protein, which had not previously been connected to the immune system. The study found that mutations in NUDCD3 disrupt the V(D)J recombination process, a critical step in the development of T cell receptors and antibodies.
These receptors and antibodies are essential for recognizing and fighting various pathogens. The disruption caused by these mutations severely compromises the immune system’s ability to function.
Although mice engineered with the same NUDCD3 mutations exhibited milder symptoms, the human patients faced severe, often fatal outcomes.
However, the study also highlighted some positive outcomes: two of the children survived after undergoing stem cell transplants, underscoring the importance of early and accurate diagnosis.
Dr. Gosia Trynka, an author of the study at the Wellcome Sanger Institute and science director at Open Targets, emphasized the critical nature of early detection.
“For babies born with these high-risk immunodeficiencies, identifying the condition early can be the difference between life and death. These disorders leave newborns essentially defenseless, making early and accurate diagnosis crucial for initiating life-saving treatments.”
Professor Sophie Hambleton, a senior author from Newcastle University and a pediatric immunologist at the Great North Children’s Hospital, remarked on the devastating impact of SCID and Omenn syndrome.
She stated that understanding the underlying genetic causes is key to improving care for affected infants.
The research aims to fill critical knowledge gaps, allowing for better diagnostics and treatment options.
Thanks to the families who participated in the study, this research not only advances scientific understanding but also holds the promise of better outcomes for future generations suffering from similar conditions.
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The research findings can be found in Science Immunology.
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