A case of atypical, complete DiGeorge syndrome without 22q11 mutation

A 4-month-old male infant presented in consult to allergy and immunology with eosinophilia (3 separate counts >3,000/mm3) and an erythrodermic rash. The infant had known unilateral kidney agenesis, tetralogy of Fallot, pulmonary atresia, and ventriculoseptal defect. He had undergone an initial cardiac repair with a Blalock-Taussig shunt at 19 days of life. The patient received 1 transfusion, with irradiated packed red blood cells, at 1 month of age. At 2 months of age, the infant had been admitted to the intensive care unit for hypotension presumed secondary to sepsis from an unclear source.

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