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

[Keller, Michael]

Hi Megan,

Sounds like she would fall into the "variant" category based on your description.  ATM might be another possibility with the dropping lymphocyte count.  A radiation sensitivity assay (through UCLA) might be helpful there.

Given the increased memory compartment, I wonder if sending chimerism studies would be helpful?

Re sequencing, you might want to contact Baylor Genomics, as Dr. Lupski has previously offered research-based whole exome sequencing of striking cases.

Best,
Mike


-------------------------

Michael D. Keller MD

Division of Allergy / Immunology

Children's National Health System

111 Michigan Ave NW, Room 1W-314B

Washington, DC 20010

Clinic: 202.476.3016

Office: 202.476.5843

Fax: 202.476.2280

www.childrensnational.org


________________________________
From: Cooper, Megan [Cooper_M at kids.wustl.edu]
Sent: Tuesday, September 30, 2014 8:52 PM
To: CIS-PIDD
Subject: [cis-pidd] SCID genetic testing?

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
Cooper_m at kids.wustl.edu<https://urldefense.proofpoint.com/v2/url?u=http-3A__mailto-3ACooper-5Fm-40kids.wustl.edu&d=AAMFAw&c=Zoipt4Nmcnjorr_6TBHi1A&r=mERX_I8PKb0Uil9coedoT1CtvFqkSey45L0vbcX0oKI&m=BEZk7ZNtV-VKH5kdgk_KMbcgbqP3DzPREeEr4zr973w&s=eyDpK3vGR5I9VicjK2aDp8_Bn8aAfeEQpO_oMKawS-I&e=>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M<https://urldefense.proofpoint.com/v2/url?u=http-3A__research.peds.wustl.edu_Default.aspx-3Falias-3Dresearch.peds.wustl.edu_Labs_Cooper-5FM&d=AAMFAw&c=Zoipt4Nmcnjorr_6TBHi1A&r=mERX_I8PKb0Uil9coedoT1CtvFqkSey45L0vbcX0oKI&m=BEZk7ZNtV-VKH5kdgk_KMbcgbqP3DzPREeEr4zr973w&s=LxDYM8vnVDB1OHBBevFKbQDMRe3hq9frTz5IpyloH1g&e=>
(lab office) 314-286-0262
(lab fax) 314-286-2895


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.

---

The CIS-PIDD listserv is supported by:

[http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org<https://urldefense.proofpoint.com/v2/url?u=https-3A__cis.execinc.com_edibo_Signup&d=AAMFAw&c=Zoipt4Nmcnjorr_6TBHi1A&r=mERX_I8PKb0Uil9coedoT1CtvFqkSey45L0vbcX0oKI&m=BEZk7ZNtV-VKH5kdgk_KMbcgbqP3DzPREeEr4zr973w&s=hIGjoMJzPzPN9pwobEplTb9XziPUinHVsaMHZOA3iAk&e=> to join!

You are currently subscribed to cis-pidd as: mkeller at childrensnational.org<mailto:mkeller at childrensnational.org>.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=202536700.bba161e2ff9c9e1b35b1386869d41ea1&n=T&l=cis-pidd&o=45561569<https://urldefense.proofpoint.com/v2/url?u=http-3A__lm.clinimmsoc.org_u-3Fid-3D202536700.bba161e2ff9c9e1b35b1386869d41ea1-26n-3DT-26l-3Dcis-2Dpidd-26o-3D45561569&d=AAMFAw&c=Zoipt4Nmcnjorr_6TBHi1A&r=mERX_I8PKb0Uil9coedoT1CtvFqkSey45L0vbcX0oKI&m=BEZk7ZNtV-VKH5kdgk_KMbcgbqP3DzPREeEr4zr973w&s=lbX7DJICIKo60LjLSVFZXLkByw1XPb_CEgO4GOmcZzw&e=>

,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
Confidentiality Notice: This e-mail message, including any attachments, is for the sole use of the intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply e-mail and destroy all copies of the original message.

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=45563537
or send a blank email to leave-45563537-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20141001/714d1d4c/attachment-0001.html>