A second sister died at age 9 months of lung lymphoma. She started at 4 months old, with three episodes of pneumonia and one of sepsis; she suffered from milk protein allergy, vulvovaginal candidiasis, and diaper area dermatitis; her laboratory workup found: transient peripheral lymphopenia, low T-cells subsets (CD4+ 8 to 403 cells/mm3, CD8+ 6 to 232/mm3) with normal B and NK cells; normal serum immunoglobulin levels (IgG 853mg/dL, IgM 41, IgA 64 mg/dL, IgE < 18 IU/ml); positive CMV viral load, Acinetobacter baumanii cultured from blood, Enterococcus faecium from urine, and Enterobacter aerogenes from bronchial aspirate. Cystic fibrosis, HIV infection, tuberculosis, and gastroesophageal reflux disease were ruled out; a nitroblue tetrazolium (NBT) reduction assay was normal at 81%. The chest X-ray showed a paravertebral mediastinal mass; a chest computed tomography (CT) confirmed a well-delimited, right retrocardiac rounded mass shortly before her death. She deteriorated abruptly with metabolic acidosis, progressive respiratory distress and heart failure; she was admitted to the intensive care unit and received mechanical ventilation support, broad-spectrum antibiotic, milrinone, and cyclophosphamide, without improvement. The autopsy confirmed a diffuse large B-cell lymphoma; EBV staining was not performed.
Our patient, the third sibling, received the BCG vaccine at birth, without complications. Before 1 year of age he was treated for uncomplicated pharyngitis and avascular necrosis of the femoral head (Legg-Calve-Perthes disease). Given his family history, he was started on oral trimethoprim/sulfamethoxazole (TMP/SMZ) and sent to our hospital for evaluation.