Recurrent Evans Syndrome in a Patient With 22q11.2 Deletion Syndrome: An Uncommon Hematological Presentation

We discuss the case of a three-year-old female patient who presented with a severe episode of immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA), confirming a diagnosis of Evans syndrome (ES). Over time, she continued to have several episodes of recurrent ITP until, several years later, she experienced a recurrent severe, refractory ES episode. Initially, she responded well to conventional treatment with steroids and intravenous immunoglobulin (IVIG); however, during later episodes, she required anti-CD20 therapy (rituximab). Due to peculiar facies and severe clinical presentation, an underlying immune dysregulation was suspected, which was later confirmed to be 22q11.2 deletion syndrome (22q11.2DS). Over time, her baseline immunoglobulin production decreased significantly. After monthly IVIG replacement, she had a marked reduction in ITP or AIHA events. 22q11.2DS is a frequently underdiagnosed primary immune disorder (PID). Low immunoglobulin production and recurrent ES are infrequent events associated with 22q11.2DS. This condition might cause profound immune dysregulation, predisposing patients to immune-related hematological dyscrasias that still need further research to be fully understood and characterized. We describe a case of 22q11.2DS and recurrent ES episodes, which involves a 13-year history of longitudinal follow-up care.