NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome

Sci Immunol. 2024 May 24;9(95):eade5705. doi: 10.1126/sciimmunol.ade5705. Epub 2024 May 24.

Abstract

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.

MeSH terms

  • Animals
  • B-Lymphocytes / immunology
  • Child, Preschool
  • Female
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / immunology
  • Humans
  • Infant
  • Male
  • Mice
  • Mutation, Missense
  • Severe Combined Immunodeficiency* / genetics
  • Severe Combined Immunodeficiency* / immunology
  • T-Lymphocytes / immunology
  • V(D)J Recombination* / genetics
  • V(D)J Recombination* / immunology

Substances

  • RAG-1 protein
  • Homeodomain Proteins