A 2-MONTH-OLD male infant presented with fever, which he had since age 1 month, and recurrent generalized seizures. On physical examination, jaundice, low-set ears, and a flattened nasal bridge were seen. The liver (4 cm below the right costal margin) and spleen (9 cm below the right costal margin) were palpable below the respective costal margins. Punched out ulcers in the perianal region were also seen. He was third in the birth order, with 2 older siblings who are still alive and healthy. There was no family history of consanguinity. Investigations revealed pancytopenia, a hemoglobin level of 40 g/L; a platelet count of 10 × 109/L; total leukocyte count of 0.0027 × 109/L, with 0.16 polymorphonuclear leukocytes, 0.78 lymphocytes, 0.04 myelocytes, and 0.2 monocytes; a prothrombin time of 25 seconds (control, 14 seconds), and a prothrombin thromboplastin time with a kaolin level 120 seconds (control, 35 seconds). There was hypofibrinogenemia (120 mg/L) with increased levels of serum bilirubin (131.67 µmol/L [7.7 mg/dL]) and alkaline phosphatase (27 King-Armstrong units). A Venereal Disease Research Laboratory test was nonreactive; toxoplasma and herpes simplex virus titers and human immunodeficiency virus and urine tests for CMV were negative. Computed tomographic scan of the head revealed a mild hydrocephalous with periventricular lucencies.