Patient was diagnosed with autosomal dominant WHIM syndrome

Patient was diagnosed with autosomal dominant WHIM syndrome (Warts, Hypogammaglobulinemia, Infections, Myelokathexis). Genomic DNA sequencing from peripheral blood mononuclear cells revealed a heterozygous point mutation, R334X, in the full-length transcript isoform b at the C-terminal resulting in a premature truncation of the CXCR4 protein.

How would you treat this patient? What are some possible side effects associated with this treatment? Do the pros outweigh the cons? Please be specific.

Solution

This patient can be treated in the following ways:

Some possible side effects associated with this treatment are severe allergic reactions in reponse to immunoglobulin treatment.Headaches during intravenous infusion may also result.

Yes, the pros definitely outweigh the cons as the side effects occur rarely and can disappear if the doses administered are reduced.