A female infant is diagnosed with hemophagocytic lymphohistiocytosis (HLH) not associated with an Epstein-Barr virus (EBV) infection. In taking the family history, you learn that another female infant died of HLH 2 years ago. Also, a newborn female child died of an unknown disease 4 years prior and was said have been bleeding profusely, jaundiced, and had a distended abdomen. When counseling the family about the genetics of HLH, how will you explain it?
Correct Answer: B
Rationale: The correct answer is B: It is an autosomal recessive syndrome. HLH is typically inherited in an autosomal recessive manner, meaning that two copies of the affected gene are needed to manifest the disease. In this case, the family history indicates that multiple female infants were affected, suggesting a recessive pattern. Choice A is incorrect as HLH is not an X-linked syndrome, indicated by the affected female infants. Choice C is incorrect since dominant inheritance would not result in multiple affected female infants. Choice D is also incorrect as autosomal recessive syndromes do not typically exhibit incomplete penetrance.