Incidence of malignancies in PID patients is known to be substantially increased in comparison with age-adjusted non-PID population and varies between different groups of PIDs.
We analyzed data of 2563 patients from 3.5 months to 87 years of age (Me-13 years), collected in the Russian PID Registry between 2017 and May 1, 2019. Of these patients, 1793 were children under 18 years.
Malignancies were reported in 101 children, with estimated incidence of 5.6%, and in 4 adults (0.4%), with highest prevalence in combined syndromic PID (62), followed by combined PID (19), including 2 SCID patients, antibody defects (12), immune dysregulation (10), phagocytes defects (1-severe congenital neutropenia). As expected PID with DNA repair defects had the highest incidence of malignancies and included Nijmegen breakage syndrome (30), Ataxia telangiectasia (19), Bloom’s syndrome (1). Other syndromic PID included Wiskott-Aldrich syndrome (6), DiGeorge syndrome (1), Hyper-IgE syndrome (1), Kabuki syndrome (1), ICF2 (1), Cartilage Hair Hypoplasia (1), PNP deficiency (1). Humoral disorders included CVID (6), NFKb1 defect (1), sIgA deficiency (2), APDS1 (1), hypogammaglobulinemia (2). Immune dysregulation group consisted of XLP1 (7), ALPS (2) and CTLA4 defect(1).
Lymphomas were reported in 46%, leukemia in 17%, solid tumors in 8% and lymphomatoid granulomatosis in 7% of patients.
Russian registry data supports previous observations of high malignancies rate in children with PID (5.6%) with highest incidence in DNA-repair disorders (48%). Low numbers of CVID cases in the registry due to adults’ PID underreporting reflects low incidence of cancer types common for adult population.