Inborn errors of immunity (IEI) are associated with an increased susceptibility to autoimmune diseases, such as autoimmune hemolytic anemia and Evans syndrome (ES).
To describe the prevalence of IEI in children with ES.
This was a descriptive and retrospective study conducted in the pediatric immunohematology department in Tunisia over 15 years (2010–2024), including patients diagnosed with ES. Patients with a previously diagnosed IEI before ES onset were excluded. Evans syndrome was defined by the presence of two concomitants or sequential autoimmune cytopenias, and IEI diagnosis followed the 2022 IUIS classification update.
Forty-seven patients (26 boys and 21 girls) were included, with a median age of 39 months (13–81). A confirmed or probable IEI was identified in 35 patients (75%). A family history of hemato-immunologic disorders was present in 15 cases (32%). The first cytopenia was thrombocytopenia (n = 16, 34%), concomitant AIHA and thrombocytopenia (n = 10, 21%), and pancytopenia (n = 6, 13%). Features suggestive of IEI was found in 28 patients (60%), including lymphoproliferation (n = 11), eczema (n = 2), chronic diarrhea (n = 6), recurrent infections (n = 8), and myopathy (n = 1). Most frequently identified IEIs were ALPS (n = 9), LRBA/CTLA4 deficiency (n = 3), SWA (n = 2), ORAI deficiency (n = 1), hyper IgM syndrome (n = 1), common variable immune deficiency (n = 2), LRBA deficiency (n = 2), IPEX syndrome (n = 1), IgM deficiency (n = 1), probable immune dysregulation (n = 9), unclassified IEI (n = 4). Treatment included corticosteroids (n = 47, 100%), intravenous immunoglobulin (n = 16, 34%), immunosuppressive drugs (n = 12), Rapamycin (n = 5), rituximab (n = 1), splenectomy (n = 4), and hematopoietic stem cell transplantation (n = 4). Nine patients died and 39 (83%) experienced relapse during follow-up. Multivariate analysis identified abnormal IgG levels as a predictor of IEI (RR = 21.16, 95% CI [2.5–177], p = 0.005).
The discovery of ES in pediatric patients requires thorough immunological investigations to identify an underlying IEI. Managing ES remains challenging, and treating the underlying IEI can help control the autoimmune process.
