Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).

The same trend was noted when patients with or without autoimmune complications were compared: there was no difference in TREC numbers between the groups (430.7 ± 192 vs 431.4 ± 329, p = 0.6), but KREC levels were lower in the group with autoimmunity, though the difference did not reach statistical significance (2.7 ± 0.4 vs 782 ± 546, p = 0.15).

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