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

[CIS-PIDD]

Hi Elena, 

the only lab that I know of that does fibro-based testing of TLR3 function is indeed Jean-Laurent Casanova's research lab and no accredited lab exists? 

However, if you find a mutation/rare VUS in her TLR3 gene(s), the chances are - even if it not already published - that such a VUS has already been tested by Shen-Ying Zhang for its functional significance --> thus if a rare VUS pops up, consult them?

ATB

Mikko


oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE), HUS
 
Mikko Seppänen, MD, PhD, Associate professor 
Specialist in Internal Medicine and Infectious Diseases
Head, Rare Disease Center, Helsinki University Hospital (HUH)
Children’s Hospital, P.O.Box 280
FI-00029 HUS
FINLAND
&
Senior Consultant (PIDD)
Adult Immunodeficiency Unit
Inflammation Center, HUH

phone +358 9 47180201
GSM +358 50 4279606
fax +358 9 47174703




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Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
Lähetetty: 24. toukokuuta 2016 8:23
Vastaanottaja: CIS-PIDD <cis-pidd at lyris.dundee.net>
Aihe: [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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