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
- 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
- Most patients had low T, Th, Tc and B lymphocyte counts with increased proportion of NK cells
- 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)
- 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
- 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