[CIS PIDD] FW: Hyper IgE in 3 yo

[Puck, Jennifer]

I would not assume that the 3 year old male with high IgE does NOT have
STAT3 mutation based on lack of facial phenotype, as this may not be
discernible until adolescence. Agree that lymphocyte subsets may help
increase suspicion of DOCK8 if T cells are low. The NIH NIAID program of
Steve Holland studies both AD and AR hyper-IgE and could be interested in
enrolling this child and family members for their protocol, which can
include Th17 phenotyping and complete genotyping in his CLIA lab.
Jennifer

Jennifer M. Puck, M.D.
Professor of Pediatrics
University of California, San Francisco, Box 0519
513 Parnassus Avenue, HSE 301A
San Francisco, CA  94143-0519

Email: puckj at peds.ucsf.edu
<applewebdata://00D6F467-7900-44D5-A7F8-3D2FF7973DFE/puckj@peds.ucsf.edu>
Phone: 415 476-3181
FAX: 415 502-5127 



>

>Today's Topics:

>

>   1. DOCK8 (Elif Dokmeci)

>   2. Re: DOCK8 (Kumar, Ashish)

>   3. Re: DOCK8 (Rafael Firszt)

>   4. Re: DOCK8 (Dr. Carsten Speckmann)

>   5. Re: DOCK8 (Elif Dokmeci)

>

>

>----------------------------------------------------------------------

>

>Message: 1

>Date: Fri, 24 Aug 2012 09:24:39 -0600

>From: Elif Dokmeci <edokmeci at gmail.com>

>Subject: [CIS PIDD] DOCK8

>To: pagid at list.clinimmsoc.org

>Message-ID:

>	<CABpYSg0c+74g9rgG6WM9G1gzsBn-XhRtLZc2RaHTL8J3-eKa=Q at mail.gmail.com>

>Content-Type: text/plain; charset="utf-8"

>

>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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>

>Message: 3

>Date: Fri, 24 Aug 2012 15:54:33 +0000

>From: Rafael Firszt <Rafael.Firszt at hsc.utah.edu>

>Subject: Re: [CIS PIDD] DOCK8

>To: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>

>Message-ID:

>	<FF1684F6E3382E4ABD0E896778A321FB10EC429E at X-MB8.xds.umail.utah.edu>

>Content-Type: text/plain; charset="us-ascii"

>

>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

>

>Message: 4

>Date: Fri, 24 Aug 2012 17:56:07 +0200

>From: "Dr. Carsten Speckmann"

>	<carsten.speckmann at uniklinik-freiburg.de>

>Subject: Re: [CIS PIDD] DOCK8

>To: pagid at list.clinimmsoc.org

>Message-ID: <5037A417.3070909 at uniklinik-freiburg.de>

>Content-Type: text/plain; charset="iso-8859-1"; Format="flowed"

>

>The Department of Clinical Genetics at the University of Amsterdam

>(Netherlands) is running it as a commercial test.

>You can contact Dr. Muriel Alders for details and the "day price" (was

>1100 Euro recently): m.alders at amc.uva.nl

>Regards, Carsten

>

>-- 

>Dr. med. Carsten Speckmann

>Facharzt

>Zentrum fuer Kinderheilkunde und Jugendmedizin

>Centrum fuer Chronische Immundefizienz - CCI

>Universitaet Freiburg

>Mathildenstr. 1

>79106 Freiburg

>Germany

>

>phone: +49 (0)761-270 43010

>mail: carsten.speckmann at uniklinik-freiburg.de

>web: www.cci.uniklinik-freiburg.de