[CIS PIDD] [cis-pidd] evaluation of TLR3 deficiency

[CIS-PIDD]

Hi Elena
I think, as you mentioned, that the PBMC testing for TLR 3 with Poly IC is not always the best.  I don't know of another commercially available assay and would probably move toward sequencing with the testing and clinical scenario you've described.
Jen

Jennifer Heimall, MD
The Children's Hospital of Philadelphia
Allergy/Immunology Attending Physician
Medical Director Day Medicine
Clinical Assistant Professor of Pediatrics
Perelman School of Medicine

3550 Market Street
3rd Floor
Philadelphia, PA 19104
215-590-2549 (p)
215-590-4529 (f)

________________________________________
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Sent: Tuesday, May 24, 2016 1:22 AM
To: CIS-PIDD
Subject: [cis-pidd] evaluation of TLR3 deficiency

Dear colleagues,

I would like to ask you whether there are any clinically available immune diagnostics tests (other than sequencing) to evaluate TLR3 deficiency.

I saw a 5yo girl with recurrent HSV infections since 1 week old, with initially cutaneous manifestations, and eventually with encephalitis at the age of 3.5 mo, with resulting neurological impairment.  She has since been on HSV prophylaxis and every time she comes off it, she has cutaneous HSV infection.  She has had it cultured several times, HSV 2 positive.  Her NK cell function was normal, normal T and B cell subsets.  Her TLR function performed by ARUP demonstrated normal cytokine levels except with poly IC.  However, I do note that this is often abnormal for many subjects I’ve tested, and there are various discussions as to how accurate TLR3 assessment of peripheral blood is as an appropriate reflection of TLR3 function.

Is there any other clinically approved (aka orderable) test for TLR3 functional assessment?

Thanks.

Elena Hsieh, MD
University of Colorado Denver
Allergy and Immunology
Assistant Professor
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