03 June 2024

British scientists have identified genetic changes that underlie two rare childhood immune disorders, it has been announced.

Severe combined immunodeficiency (SCID) and Omenn’s syndrome seem to be caused by mutations in the NUDCD3 gene, according to the researchers. The mutations prevent the normal development of a range of immune cells, they have reported in Science Immunology.

The findings come from a genetic study of 11 children from four families, two with SCID and nine with Omenn’s syndrome. The study involved researchers from Newcastle University, the Great North Children’s Hospital, and the Wellcome Sanger Institute, as well as international collaborators.

The findings could improve early diagnosis of the two diseases and enable speedy treatment, the researchers say.

The study showed the NUDCD3 mutations impair a process called V(D)J recombination, which generates diverse T cell receptors and antibodies; specifically, the mutation prevents the regulation of the key enzyme RAG1.

Researcher Dr Gosia Trynka, of the Wellcome Sanger Institute, 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.”

Study leader Professor Sophie Hambleton, a 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.”



Chen R, Lukianova E, van der Loeff IS, Spegarova JS, Willet JDP, James KD, Ryder EJ, Griffin H, IJspeert H, Gajbhiye A, Lamoliatte F, Marin-Rubio JL, Woodbine L, Lemos H, Swan DJ, Pintar V, Sayes K, Ruiz-Morales ER, Eastham S, Dixon D, Prete M, Prigmore E, Jeggo P, Boyes J, Mellor A, Huang L, van der Burg M, Engelhardt KR, Stray-Pedersen A, Erichsen HC, Gennery AR, Trost M, Adams DJ, Anderson G, Lorenc A, Trynka G, Hambleton S. (2024) “NUDCD3 deficiency disrupts V(D)J recombination to cause SCID/Omenn syndrome.” Science Immunology, 24 May 2024, doi: 10.1126/sciimmunol.ade5705

Link: https://www.science.org/doi/10.1126/sciimmunol.ade5705


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