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NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome. 2024
Rui Chen, and
Elena Lukianova, and
Ina Schim van der Loeff, and
Jarmila Stremenova Spegarova, and
Joseph D P Willet, and
Kieran D James, and
Edward J Ryder, and
Helen Griffin, and
Hanna IJspeert, and
Akshada Gajbhiye, and
Frederic Lamoliatte, and
Jose L Marin-Rubio, and
Lisa Woodbine, and
Henrique Lemos, and
David J Swan, and
Valeria Pintar, and
Kamal Sayes, and
Elias R Ruiz-Morales, and
Simon Eastham, and
David Dixon, and
Martin Prete, and
Elena Prigmore, and
Penny Jeggo, and
Joan Boyes, and
Andrew Mellor, and
Lei Huang, and
Mirjam van der Burg, and
Karin R Engelhardt, and
Asbjørg Stray-Pedersen, and
Hans Christian Erichsen, and
Andrew R Gennery, and
Matthias Trost, and
David J Adams, and
Graham Anderson, and
Anna Lorenc, and
Gosia Trynka, and
Sophie Hambleton
Translational and Clinical Research Institute, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 11 affected patients across four consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain-containing 3 (NUDCD3). Two infants had severe combined immunodeficiency with the complete absence of T and B cells (T -B- SCID), whereas nine showed classical features of Omenn syndrome (OS). Restricted antigen receptor gene usage by residual T lymphocytes suggested impaired V(D)J recombination. Patient cells showed reduced expression of NUDCD3 protein and diminished ability to support RAG-mediated recombination in vitro, which was associated with pathologic sequestration of RAG1 in the nucleoli. Although impaired V(D)J recombination in a mouse model bearing the homologous variant led to milder immunologic abnormalities, NUDCD3 is absolutely required for healthy T and B cell development in humans.
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