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Parents Who Were Distantly Related to Each Other Brought Their

question 17

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Parents who were distantly related to each other brought their 11-week-old infant Kristen to the emergency room after she had a seizure accompanied by a persistently high fever and running nose.Her liver and spleen were palpable (hepatosplenomegaly) .Laboratory tests revealed abnormally high levels of lymphocytes,and of the cytokines IFNγ,TNF-α,and IL-6.Conversely,levels of hemoglobin and platelets were abnormally low.Bone marrow aspiration showed the presence of macrophages containing phagocytosed red blood cells and numerous large granular lymphocytes.Molecular analysis was carried out to confirm the physician's suspicion of a congenital immunodeficiency.A frameshift mutation in the perforin gene PRF1 was found on both chromosomes.Kristen was diagnosed with the rare,potentially life-threatening disease known as familial hemophagocytic lymphohistiocytosis (FHL) .Cytotoxic and aggressive immunosuppressive chemotherapy was administered followed by a matched unrelated hematopoietic stem cell transplant.Two years later Kristen is a healthy toddler.Which of the following would not be consistent with the etiology of FHL?

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Definitions:

Opportunity Cost

The value of the next best alternative that is foregone when making a decision or choosing one option over another.

Airplane

A powered flying vehicle with fixed wings and a weight greater than that of the air it displaces, used for transportation.

Car

A wheeled motor vehicle used for transportation, typically running on roads and able to carry a small number of people.

Comparative Advantage

The ability of an individual, company, or country to produce a good or service at a lower opportunity cost than competitors, facilitating beneficial trade and specialization.

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