[CIS PIDD] DOCK8

[Rafael Firszt]

Hi Elif,

Have you done flow on lymphocytes yet.  Dock8 patients typically have low T cells with  decreased function and normal B cells and NK cell numbers. They can have low Th17 cells which you can now order though Wisconsin.  They also have typically have low IgM.  I don't think they have characteristic joint  hyperextensibility though.

To answer your question though, DOCK 8 mutation testing is done on a limited basis at Genedx.  I think they look for large deletions only.  According to their test information, it accounts for 60% of mutations in Dock8.

Here is the link: http://www.genedx.com/test-catalog/disorders/hyper-ige-syndrome-hies/dock8-deldup/

Hope this helps

Rafael Firszt
University of Utah


From: Elif Dokmeci <edokmeci at gmail.com<mailto:edokmeci at gmail.com>>
Reply-To: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Date: Fri, 24 Aug 2012 09:24:39 -0600
To: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Subject: [CIS PIDD] DOCK8

Colleagues,

 I am following a 3 year old boy with severe eczema, IgE of 7900, multiple food and environmental allergies, hx of recurrent viral infections, now with eczema herpeticum and Staph infection, joint hyperextensibility. He lacks the classic facial features  AD Hyper IgE. I strongly consider to study DOCK8 mutation for this child.  Does anyone know who would be able study this test? I don't see that it is commercially available yet.
Thanks,
Elif


Elif  Dokmeci, MD
Pediatric Immunology
Assistant Professor of Pediatrics
University of New Mexico Children's Hospital
Phone: 505 272 8185
Fax: 505 272 4549
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