20)A child presents with recurrent bacterial infections. Of the genetic defects described below, what is the most likely cause of her disease? a) A mutation in C3 that increases its rate of spontaneous cleavage into C3b and C3a. b) A mutation in an endosomal TLR that causes constitutive homodimerization. c) A mutation in the C3 gene that renders the C3 protein nonfunctional. d) A mutation in an endosomal TLR that prevents its homodimerization.
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a) A mutation in C3 that increases its rate of spontaneous cleavage into C3b and C3a would lead to increased activation of the complement system, which could potentially cause tissue damage but would not necessarily result in recurrent bacterial infections. Show more…
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