[CIS PIDD] Possible DOCK8 with complications

[Church, Joseph]

Colleagues:

We are caring for a 15yo boy from the Middle East.

He has many features of a DOCK8 mutation (genetic studies are pending) and we are preparing him for BMT from his HLA-identical sibling.

His major problem is progressive neurologic symptoms, primarily cerebellar, and likely related to his documented:

*         CNS vasculopathy (dx'd with MRI angiography)

*         EBV - present in CSF (normal LFTs, no adenopathy or organomegaly).

*         JC virus - present in CSF.

Your thoughts regarding the following would be much appreciated:
            1. Conditioning regimen?
            2. Pre-transplant rituximab to reduce EBV?

Thanks.

Joe Church
Children's Hospital Los Angeles







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