Primary immunodeficiencies(PIDs) are characterized by susceptibility to infections, autoimmunity but also cancer. Chromosome instability, chronic antigenic stimulation, tissue inflammation, impaired cell development and impaired immune surveillance may play a crucial role in the appearance of cancer in PIDs.
The aims of this study are to establish the frequency and evolution of the lymphoproliferative diseases in PIDs, in comparison with that of lymphoproliferative diseases without PIDs.
We analyzed 220 patients aged 0-18 years, diagnosed with PID in the period 1990 – 2018.
18 patients (8,1%) developed lymphoproliferation (8 females and 10 males): 1 case with acute myeloblastic leukemia, 9 cases with non-Hodgkin lymphoma and 8 cases with lymphoproliferative disorders. The types of PID were: congenital neutropenia-1 case, ataxia-telangiectasia-1 case, hyperIgM syndrome-1 case, IgA deficiency-1 case, LRBA deficiency-1 case, TACI deficiency – 1 case, APDS- 1 case, CVID- 2 cases, combined immunodeficiency-2 cases, ALPS-2 cases and 5 cases with Nijmegen breakage syndrome. In 10 patients (55,5%) the onset of lymphoproliferative disorder preceded PID diagnosis. Treatment consisted in IVIg-11 patients, chimiotherapy-12 patients, G-CSF-2 patients and BMT-1 patient. 10 patients (55,5%) deceased. Mortality rate in patients with malignant lymphoproliferation was 70%. Mortality rate in 649 patients diagnosed (in the same clinic) with malignant hemopathies (AIDS patients were excluded) but without PIDs was 40,6%.
PIDs show a significantly higher incidence of lymphoproliferation. All patients with lymphoproliferation should be investigated for PID. The mortality rate was significant higher in patients with PIDs and malignant hemopathies in comparison with the patients with malignant hemopathies and without PIDs.