[CIS-PAGID] WA with low T cells

[Cooper, Megan]

Hi again everyone,

I'm wondering how often people see significant T cell production problems with Wiskott-Aldrich?  I have seen reports of moderately low T cell numbers (in addition to the known dysfunction), but we have a new patient with very low numbers and low TRECs.

This is a 1mo boy who presented with poor feeding, thrush, and diarrhea.  He was found to have low platelets (30's-40s) with a normal MPV (8-10).  He was noted to have an absent thymic shadow and further testing showed low T cells with normal/high B and NK cells (see below), negative FISH for DiGeorge.  TRECs were low and he had a significant percentage of memory-phenotype and activated T cells.  We are looking for maternal engraftment now and proliferation studies are pending.  For now we are treating him as WA with T cell deficiency with prophylaxis, IVIG, and stem cell transplant.

His WA mutation is a novel mutation, a frameshift mutation in exon 11.

Labs:
Cell counts -
CD3 - 534
CD4 - 340
CD8 - 97
CD19 - 2671
CD16/56 - 1505

CD4 cells:
CD45RA 53%
CD62L/CD27 47%
CD45RO 22%
CD4/CD25+ 75%
DR+ 42%

CD8 Cells:
CD45RA 95%
CD45RO 0%
DR+ 7%

TRECs: 1233 copies per million CD3 cells (reference >4169 for <2yo)

IgG 481; IgA <7; IgM 10

FISH Chr22 negative

Thanks!

Megan


Megan A. Cooper, MD, PhD
Instructor, Pediatric Rheumatology
Washington University School of Medicine
Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M





The materials in this email are private and may contain Protected Health Information. If you are not the intended recipient, be advised that any unauthorized use, disclosure, copying, distribution or the taking of any action in reliance on the contents of this information is strictly prohibited. If you have received this email in error, please immediately notify the sender via telephone or return email.
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20120328/60f2d9d4/attachment.html>