[CIS PIDD] Hyper IgE in 3 yo

[Elif Dokmeci]

 Thank you all for valuable inputs.
 Elif

On Fri, Aug 24, 2012 at 12:00 PM, Fleisher, Thomas (NIH/CC/DLM) [E] <
TFleishe at cc.nih.gov> wrote:


>

> Viral infections and food allergy would make DOCK8 seem a very reasonable

> likelihood, I agree with Jennifer that the protocol at NIH would afford

> evaluation for both DOCK8 and STAT3 mutations.

>

> Thomas A. Fleisher, M.D.

> Chief, Department of Laboratory Medcine

> NIH Clinical Center

> Bethesda, MD 20892

> 301 496-5668 (tel)

> 301 402-1612 (fax)

>

>

> -----Original Message-----

> From: Puck, Jennifer [mailto:PuckJ at peds.ucsf.edu]

> Sent: Friday, August 24, 2012 1:51 PM

> To: pagid at list.clinimmsoc.org

> Subject: [CIS PIDD] FW: Hyper IgE in 3 yo

>

>

> 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

> >-------------- next part --------------

> >

> >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/do

> >ck8

> >-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

>

>

> The CIS-PIDD listserv is supported by:

> Clinical Immunology Society - The science & practice of human immunology

>

> P: +1.414.224.8095

> E: info at clinimmsoc.org

>

> Not a member of CIS? Please visit www.clinimmsoc.org to join!

> The CIS-PIDD listserv is supported by:

> Clinical Immunology Society - The science & practice of human immunology

>

> P: +1.414.224.8095

> E: info at clinimmsoc.org

>

> Not a member of CIS? Please visit www.clinimmsoc.org to join!

>




-- 
Elif  Dokmeci, MD
Allergy and Immunology
Assistant Professor of Pediatrics
University of New Mexico Children's Hospital
Phone: 505 272 8185
Fax: 505 272 4549
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20120824/5a8d142b/attachment.htm>