Patient was diagnosed with deficient innate immune signaling

Patient was diagnosed with deficient innate immune signaling to bacterial PAMPs leading to recurrent pyogenic bacterial infection. Genetic screening: Patient was determined to be homozygous for the E52del mutation in the MyD88 gene. This mutation has been previously reported in patients with susceptibility to bacterial infections resulting in pyogenic infection. Parents were heterozygous for the mutation and received genetic counseling in case they decide to have additional offspring as ~40% of homozygous children do not survive past 2 years of age. How would you treat this patient? What are some possible side effects associated with this treatment? Do the pros outweigh the cons?

Solution

The best possible way to treat this patient is gene therapy.

But this therapy is costly but this is best option for treatment of any genetic disorder