[CIS PIDD] Hyper IgE in 3 yo

[Elif Dokmeci]

 I thought DOCK8 more likely than STAT3, due to lack of newborn rash, lack
of high arched palate, presence of severe food and  environmental allergies
and cutanous viral infections( he also had severe varicella infection the
past besides HSV1 now), lack of skeletal findings.  I agree that STAT3 also
needs to be studied. His IgE  level  7800 range and eosinoplhils count of
1200.
 Flow didnt show low CD4 T cells, LMP is still pending. NIH score was in
gray zone for this patient.  He has MSSA bacteremia and diffuse HSV1 + skin
infection now, and responds to iv  therapy well.
 There are cases from Mexico, Turkey, Iran with normal CD4 counts and IgM
levels, which makes diagnosis more difficult for DOCK8. This patient is
Mexican and  Navajo Native American in origin.

Thanks
Elif




On Fri, Aug 24, 2012 at 12:32 PM, Elif Dokmeci <edokmeci at gmail.com> wrote:


>  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:

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>>

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>>

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>> The CIS-PIDD listserv is supported by:

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

>>

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>> E: info at clinimmsoc.org

>>

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>>

>

>

>

> --

> 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

>

>



-- 
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
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