[CIS PIDD] [cis-pidd] SCID genetic testing?

Wed Oct 1 09:59:26 EDT 2014

Agree.  How about just repeating T cell numbers and function in a month or two?

From: Cunningham-Rundles, Charlotte [mailto:charlotte.cunningham-rundles at mssm.edu]
Sent: Wednesday, October 01, 2014 8:44 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] SCID genetic testing?

Just wondering what you mean by positive NBS screen here? As others,  we have seen low lymphocyte counts in these numbers in thriving infants who don't seem to need any rx.

Sent from my iPhone

On Sep 30, 2014, at 8:53 PM, "Cooper, Megan" <Cooper_M at kids.wustl.edu<mailto:Cooper_M at kids.wustl.edu>> wrote:
Hi Everyone,

I am seeing an infant referred for a positive NBS for SCID.  I have run into a situation where her insurance is completely unwilling to pay for any genetic testing.  I'm wondering if anyone is doing research-based testing or has other ideas about how to obtain further testing.  I'm guessing this has been a problem in other states with NBS. Luckily - she is doing relatively well, proliferation is normal, but she is only 2 months old and her T cells are dropping.  I think further testing (?hypomorphic mutation) would allow for better prediction of her prognosis/need for treatment.

Briefly her clinical picture:
-Near-term, no major complications, eating/growing, normal exam, now almost 2 months old
-low T cells (below) with other normal counts  - although B and NK #s are going down as well
-completely normal proliferation to mitogens
-CD4RTE test at mayo showed elevated CD45RO% (~30%), but normal percentage of CD31+ cells within the CD45RA compartment (84% of CD45RA+ were CD31+)
-Chr 22 and 10 FISH negative, no known midline/cardiac defects.
-HIV PCR negative & maternal HIV negative, Chr 22 and 10 FISH negative.

Counts:

8/26/14:
CD4 - 838
CD8 - 510
CD19 - 1239
CD56/16 - 875

9/29/14
CD4 - 656
CD8 - 316
CD19 - 729
CD56/16 - 632

Normal class I/II expression, nl CD40, T cells largely negative DR

Thanks,

Megan

Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
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