Malignancy in Patients With Inborn Errors of Immunity Beyond Infectious Complication: Single Center Experience for 30 Years

Purpose: Cancer incidence is known to be higher in patients with inborn errors of immunity (IEI) compared to the general population in addition to traditionally well-known infection susceptibility.We aimed to investigate cancer occurrence in patients with IEI in a single center.Methods: Medical records of IEI patients treated at Samsung Medical Center, Seoul, Korea were retrospectively reviewed from November 1994 to September 2023.Patients with IEI and cancer were identified.Results: Among 194 patients with IEI, seven patients (3.6%) were diagnosed with cancer.Five cases were lymphomas, 4 of which were Epstein-Barr virus (EBV)-associated lymphomas.The remaining cases included gastric cancer and multiple myeloma.The median age at cancer diagnosis was 18 years (range, 1-75 years).Among patients with cancer, underlying IEIs included X-linked lymphoproliferative disease-1 (XLP-1, n=3), activated phosphoinositide 3-kinase delta syndrome (APDS, n=2), and cytotoxic T-lymphocyte antigen 4 (CTLA-4) haploinsufficiency (n=2).Seventy-five percent (3/4) of XLP-1 patients, 40.0%(2/5) of APDS patients, and 50.0%(2/4) of CTLA-4 haplo-insufficiency patients developed cancer.Patients with XLP-1 developed cancer at earlier age (median age 5 years) compared to those with APDS and CTLA-4 (P<0.001).One patient with APDS died during hematopoietic cell transplantation.