T cells in Nijmegen Breakage Syndrome

Reference: Piatosa B, Wolska-Kus ́ nierz B, Tkaczyk K, Heropolitanska-Pliszka E, Grycuk U, Wakulinska A and Gregorek H (2020) T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway. Front. Immunol. 11:1319.

Journal: Frontiers in Immunology


  1. 46 patients with Slavic 657del5 mutation in nibrin gene and 46 controls were evaluated for basic lymphocytes population and T cell maturation and exhaustion pattern
  2. Most patients had low T, Th, Tc and B lymphocyte counts with increased proportion of NK cells
  3. They also had low recent thymic emigrants and naive cells, elevated effector memory T cells, increased proportion of high differentiated revertant terminal effector memory T lymphocytes expressing CD45RA(H-TEMRA)
  4. Increased senescent markers, CD57 and KLRG1  was seen on CD4+ T cells along with increased proportion of PD1 expression which can be due to preterm senescence 
  5. Defective thymic production was observed in children and adolescents but not in adults

Bottom line: NBS patients show aberrant peripheral T cell maturation pattern with skewing towards effector T cells which might be related to increased predisposition to malignancy and a comparatively milder clinical course