[CIS-PAGID] IPEX question

[Perez, Elena]

Dear All,

We have a 3mo baby with IPEX confirmed (1156 C>T; R386C) in the hospital, with DM on insulin drip, diarrhea, dermatitis who is vent/trach dependent (able to breathe over the vent but requiring a little extra PEEP to help), unable to wean off (transferred from outside hosp w/ trach and on vent). He only weighs 3.1 kg. We have him on sirolimus (levels ~15-25) and steroids, although not yet noting improvement in stools. On TPN and minimal NG feeds.

My question(s) to group is:

1.       Any thoughts on possible reversible/treatable reasons why he could be trach/vent dependent related to IPEX? (neuro consult --considered Myasthenia testing and muscle bx pending)...

2.       Prognosis doesn't seem too good, but family meeting w/ PICU, Transplant, Immunology on Friday to discuss BMT. Any insights? hope?

Appreciate thoughts.

Thanks,

Elena Perez, MD, PhD
Division of Allergy, Immunology, Rheumatology
University of South Florida
All Children's Hospital
St. Petersburg, Florida



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