Adenosine deaminase deficiency Quiz: Ace Your Exams

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A 6-month-old girl is brought to the physician due to persistent diarrhea for months. She has been hospitalized three times in the last two months due to respiratory infections that required intravenous antibiotics. Temperature is 37.8°C (100°F), blood pressure is 98/56 mmHg, and pulse is 110/min. On physical examination, the tonsils are absent. An eczematous rash is noticed over the face, limbs, and trunk. She is at the 4th percentile for weight and 5th percentile for height. Both parents are healthy; however, the patient had a brother who died at the age of two due to a severe respiratory infection. Laboratory testing is shown below. Which of the following best explains this patient's condition?

Laboratory Value  Result 
 Hemoglobin   10 g/dL 
 Mean corpuscular volume  90 fL 
 Neutrophil count  1000/mm3  
 T lymphocyte count   300/mm3 
 B lymphocyte count   170/mm3 
 Platelet count   160,000/mm3 

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