[CIS PIDD] [cis-pidd] STAT1 GOF Testing? WES?

[CIS-PIDD]

Dear Jason and colleagues,

You do have a striking case for STAT1 GOF disease.  There is not a clinical lab that will do a phosphorylation/dephosphorylation assay for STAT1.  Most of the available tests, only perform phosphorylation activation at one time point.  The MSMD panels offered will test IFN-gamma/IL-12/STAT1 pathway (Medical College of Wisconsin) .   To truly get a sense by flow for STAT1 GOF, a phosphorylation/dephosphorylation assay for time points up to two hours should be performed.  We do this in the research arena, but it is not available clinically. If the MFI for STAT1 on the clinical MSMD panel is high, it might suggest a hyperphosphorylation, but won't answer the question.  However, if you have a high suspicion, STAT1 gene testing is available: http://seattlechildrenslab.testcatalog.org - search STAT1.  As for WES, Baylor genetics has a great option with good coverage including a Trio option (proband and parents for segregation and inheritance).  Here is the Test menu - type in WES in the search box: https://www.bcm.edu/research/medical-genetics-labs/tests.cfm<https://www.bcm.edu/research/medical-genetics-labs/tests.cfm>

I am happy to help you navigate the testing options at Baylor.

Best Regards,
Lisa

Lisa Forbes, MD
Assistant Professor, Department of Pediatrics
Immunology Allergy and Rheumatology
Center for Human Immunobiology, Medical Director
1102 Bates, Suite 330
Houston, TX 77030
Phone: 832-824-1319
Fax: 832-825-1260

From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Friday, November 4, 2016 at 2:29 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] STAT1 GOF Testing? WES?

***CAUTION:*** This email is not from a BCM Source. Only click links or open attachments you know are safe.
________________________________
Hello Everyone,

1.  Can you guide me where I might find a commercial lab to have testing for IFN- and/or IL-stimulated STAT1 phosphorylation by flow cytometry and/or STAT1 sequencing performed?

2.  What about 'best' (?) lab to pursue WES for which commercial insurance might cover?

This is in regard to 23 y.o. male with inflammatory arthritis as child; 'autoimmune' colitis diagnosed in elementary school years;  respiratory failure secondary to candida pneumonia in adolescence.  Noted to have undetectable IgA and IgM at that time; very low IgG.  Later hospitalized for 'bacterial' pneumonia.  On ScIg presently.

Late teens developed dramatic lichen planus of tongue and genitals which remains problematic.  Has had esophageal candidiasis.  Currently with onychomycosis of fingernails.  History of vitiligo and recently developed alopecia.   Colitis remains an issue and refractory to variety of therapeutics; currently on TNF antagonists after failing sulfasalazine, azathioprine, MTX and rituximab.

Thanks for your thoughts.


-Jason

Jason Raasch, MD

Midwest Immunology Clinic
15700 37th Ave N, Ste 110
Plymouth, MN 55446

TEL: (763) 577-0008
FAX: (763) 577-0192







---

You are currently subscribed to cis-pidd as: lisa.forbes at bcm.edu<mailto:lisa.forbes at bcm.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396766.63dca3c8675cb6e4e57ac4d2f4bcc285&n=T&l=cis-pidd&o=3969288<https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D96396766.63dca3c8675cb6e4e57ac4d2f4bcc285-26n-3DT-26l-3Dcis-2Dpidd-26o-3D3969288&d=DQMFAg&c=ZQs-KZ8oxEw0p81sqgiaRA&r=saBa6luaDwJoxH7npR0EnV_WKj6_p6n40PfJAjaRH9o&m=gxVO-KztcBkOKAs0Kdv57gDMcmT3tm8JQ2nXvt0H7eA&s=gCGB8m6mHX_9kjwYfO26FVlLLD8KelRnSYfIcxLQnBA&e=>

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3969288-96396766.63dca3c8675cb6e4e57ac4d2f4bcc285 at lyris.dundee.net<mailto:leave-3969288-96396766.63dca3c8675cb6e4e57ac4d2f4bcc285 at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3969316
or send a blank email to leave-3969316-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20161104/3e0a124d/attachment-0001.html>