X-linked lymphoproliferative syndrome type 1 presenting as DRESS-HLH overlap syndrome

A preadolescent male, born to 3rd-degree consanguineous parents, presented with persistent fever, cough and dyspnoea. He had non-resolving suppurative otitis media and two episodes of pneumonia in the past 2 years. During admission, clinical and radiological evaluations revealed bilateral lung consolidation with synpneumonic effusion. Examination also revealed the absence of bilateral tonsils. Blood and pleural fluid cultures were sterile. The child developed a drug reaction with eosinophilia and systemic symptoms (DRESS) associated with haemophagocytic-lymphohistiocytic syndrome (HLH) during the hospital stay. Given his history of recurrent infections and absent tonsils, primary immunodeficiency disorder was suspected. Immunological work-up showed reduced levels of IgG and IgM in serum. Exome sequencing identified a mutation in the SH2D1A gene confirming a diagnosis of X-linked lymphoproliferative syndrome (Duncan syndrome). The child was started on regular intravenous immunoglobulin therapy, along with bacterial and fungal prophylaxis. His parents were counselled regarding the prognosis and necessity of haematopoietic stem cell transplantation as the definitive treatment.