A5052023391- Viral-associated cancers and disorders
- Cytomegalovirus and herpesvirus research
- Immune Cell Function and Interaction
- Parvovirus B19 Infection Studies
- T-cell and Retrovirus Studies
- Neurogenetic and Muscular Disorders Research
- Biochemical and Molecular Research
- Histiocytic Disorders and Treatments
- Immunodeficiency and Autoimmune Disorders
- Autoimmune and Inflammatory Disorders Research
Institut des Maladies Génétiques Imagine
2022-2024
Inserm
2024
Université Paris Cité
2022
Sorbonne Paris Cité
2022
Abstract De novo synthesis of the pyrimidine, cytidine triphosphate (CTP), is crucial for DNA/RNA metabolism and depends on CTP synthetases, CTPS1 −2. Partial deficiency in humans has previously been shown to lead immunodeficiency, with impaired expansion T B cells. Here, we examine effects conditional inducible inactivation Ctps1 and/or Ctps2 mouse embryonic development immunity. We report that deletion , but not embryonic-lethal. Tissue cells high proliferation renewal rates, such as...
Epstein–Barr virus (EBV) can infect smooth muscle cells causing tumors (SMTs) or leiomyoma. Here, we report a patient with heterozygous 22q11.2 deletion/DiGeorge syndrome who developed unique, broad, and lethal susceptibility to EBV characterized by EBV-infected T B disseminated EBV+SMT. The also harbored homozygous missense mutation (p.V140G) in TNFSF9 coding for CD137L/4-1BBL, the ligand of cell co-stimulatory molecule CD137/4-1BB, whose deficiency predisposes infection. We show that...