[CIS-PAGID] IPEX question

[Elie Haddad]

You could also try ATG (or Campath) in order to be even more immunosuppressive. The question of myasthenia is important because if it is indeed a myasthenia, you could then consider plasmapheresis/rituximab.
In all cases, these therapeutical strategies come with an as fast as possible BMT with the best available donor. Cord blood may be there a good option (if no related matched donors) to get quickly a donor.
Elie


Elie Haddad, MD, PhD;
Professor of Pediatrics, University of Montreal,
Head, Pediatric Immunology and Rheumatology Division,
CHU Sainte-Justine, 3175 Cote Sainte-Catherine
Montreal, QC, H3T 1C5, Canada
Ph: 1 514 345 4713
fax: 1 514 345 4897
e-mail: elie.haddad at umontreal.ca




Le 2011-10-04 à 10:23, Perez, Elena a écrit :


> 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

>  

>  


-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20111004/c89bcf88/attachment-0001.htm>