[PAGID] possible SCID

[Soheil Chegini]

Given the fact that this infant was the product of a twin gestation, it is possible that the 46XY karyotype may be related to feto-fetal transfusion, if the twin is a male.  Was the karyopype confirmed on fibroblasts such as a cheek swab?
 
 
Soheil Chegini, MD
Assistant Professor of Medicine & Pediatrics
Penn State Hershey Medical Center
500 University Dr. H041
Hershey, PA 17033
Tel. 717-531-6525
Fax 717-531-5785


>>> "Abraham, Roshini S., Ph.D." <Abraham.Roshini at mayo.edu> 2/23/2009 10:48 AM >>>





Thank you for all the suggestions and comments we have received: here is
an update:


We have been trying to taper off steroids to repeat Mitogen Stim off
steroids. The patient developed rash again and we sent of the testing
with CGH, TREC, CD4 recent thymic emigrants (to look for recent thymic
activity) working on where to send spectratyping (?suggestions).
Meanwhile, IGE level is 1430 off steroids (was only 9 on steroids!!) ,
making it likely to be Omenn despite no enlarged nodes, or enlarged L-S.
Eos is up in the 20+%( AEC around 800). Also, a recent BAL  ( was
tachypneic and with some chest infiltrate) is +  for Rhino virus. Any
further suggestions as far as BMT conditioning (MSD) and Rhino MGT (
which can be a problem during BMT)?

Thanks,


Aly Mageed, MD, MBA
Division Chief, Pediatric Blood & Marrow Transplant Program
Director, Stem Cell Engineering Laboratory
Helen DeVos Children's Hospital, Spectrum Health
Associate Professor of Pediatrics, Michigan State University
Grand Rapids, MI 
(616)-391-3962
aly.mageed at spectrum-health.org 


Roshini S. Abraham, Ph.D., D(ABMLI)
Mayo Clinic
Rochester, MN
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