Patients with primary immunodeficiency disorder(PID) have a markedly increased risk of lymphomas. Here, we report twelve patients with PID diagnosed as lymphoma. Our aim was to evaluate the characteristics of the patients with PID who were diagnosed with lymphoma.
Clinical, immunophenotypic and genetic analysis of 12 patients with PID were obtained from medical records of Hacettepe University Ihsan Dogramaci Children Hospital, Department of Pediatric Immunology from 2016 to 2019.
Twelve patients (female/male:6/6) was diagnosed as lymphoma and PID. The consanguinity ratio was 66%. Nine patients(75%) were diagnosed with lymphoma before PID. PID cases included combined immune deficiency(n:11) and ataxia telangiectasia(n:1). Three patients had defects in LRBA, while two patients and one patient had PI3KCD and STK4 defects, respectively.
Recurrent repiratory tract infections(83%) and chronic lung disease(66%) occurred in patients. Immune thrombocytopenic purpura(n:2), autoimmune hemolytic anemia(n:2), Celiac disease(n:1), amiloidosis(n:1), optic neuritis(n:1), psoriasis(n:1) and lymphoproliferation (lymphadenopathy(100%) and splenomegaly(83%)) were also reported.
The lymphoma was associated with Epstein-Barr virus (EBV) in 7 patients. Five of twelve patients (41%) are in remission, two patients(18%) are receving chemotherapy and five patients(41%) suffered from relapse within two year. Of the five patients who experienced relapse, three patients are in the second remission, and one patient is receiving chemotherapy. One patient with STK4 deficiency died from pneumonia during relapse chemotherapy.
Malignancies may be the first or only sign of an underlying PID. Patients diagnosed with lymphoma should be considered to have a PID, if there is parental consanguinity, EBV assosiation, recurrent and severe infections, autoimmunity and lymphoproliferation.