[CIS PIDD] [cis-pidd] MYD88

[Verbsky, James]

Howard and Troy



We do a simple LPS stim and measure TNF in monocytes at our CLIA lab at MCW.  It does pick up IRAK deficiency (or maybe MyD88..still waiting on genetics but good story for IRAK).  We tested the same sample with several TLRs and most were absent..  it was pretty clear.  The utility of the other TLRs is questionable, (at least in my opinion).  The TLR3 defects described in HSV encephalitis were not seen in PBMCs and needed fibroblasts...so I look to this TLR screen as a IRAK/MyD88/NEMO screen only.  Most labs that do this should pick this up.



LEt me know if you need more info



James Verbsky MD/PhD
Associate Professor of Pediatrics and Microbiology and Molecular Genetics
Medical College of Wisconsin
Milwaukee, WI  53226

________________________________
From: Torgerson, Troy [troy.torgerson at seattlechildrens.org]
Sent: Tuesday, April 30, 2013 2:56 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] MYD88

Howard,

I'm not sure if anyone is offering sequencing in a CLIA lab but there are at least 2 labs doing TLR testing where patient cells are stimulated with TLR ligands and the readout is cytokine production - these should detect most MYD88/IRAK4 defects.  ARUP has a TLR functional assay that tests TLR's 1-8 and looks at production of IL-1, TNF, and IL–6.  The TLR3 results on the ARUP test can be a little variable but the rest of them seem to be pretty reliable. IDT labs also does it but measures production of only 1 cytokine.  National Jewish was also offering a TLR screen but I don't see it on their test menu now.

Best,
Troy


Troy R. Torgerson, MD PhD

Assistant Professor, Pediatric Immunology/Rheumatology
Director, Immunology Diagnostic Laboratory (IDL)
University of Washington and Seattle Children's Hospital

Address:
Seattle Children's Research Institute
1900 9th Ave., C9S-7
Seattle, WA  98101-1304

Tel:  (206) 987-7317
Fax:  (206) 987-7310

IDL Tel:  (206) 987-7IDL (-7435)
Web:  www.seattlechildrens.org/IDL


From: Howard Lederman <hlederm1 at jhmi.edu<mailto:hlederm1 at jhmi.edu>>
Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Date: Tuesday, April 30, 2013 12:43 PM
To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Subject: [cis-pidd] MYD88

Does anyone know a commercial (or other lab) that will sequence MYD88, or a commercial lab that can do a functional test for IRAK4/MYD88?

Howard
Howard M. Lederman, M.D., Ph.D.
Professor of Pediatrics, Medicine and Pathology Division of Pediatric Allergy and Immunology Johns Hopkins Hospital - CMSC 1102 600 N. Wolfe Street Baltimore, MD 21287-3923
Phone: 410-955-5883
Fax: 410-955-0229
Email: Hlederm1 at jhmi.edu<mailto:Hlederm1 at jhmi.edu>

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