[CIS PIDD] [cis-pidd] DOCK8 mutation

Tue Jul 19 11:10:03 EDT 2016

Dock8 does not seem to be the cause for your patient's phenotype.
I am not aware of dominant-negative Dock8 mutations.
No further action on Dock8 is needed.
Yours,
Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Breisacherstraße 115, 79106 Freiburg
bodo.grimbacher at uniklinik-freiburg.de<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci

and

Consultant Immunologist
Institute of Immunity & Transplantation
Dept of Immunology
Royal Free Hospital
UNIVERSITY COLLEGE LONDON
Pond Street
London NW3 2QG
b.grimbacher at ucl.ac.uk<mailto:b.grimbacher at ucl.ac.uk>
www.centreforimmunodeficiency.com

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Wednesday 29 June 2016 23:36
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: Re: [cis-pidd] DOCK8 mutation

I wasn't clear.

The variant is heterozygous.  So I was wondering if dominant negative should be considered?

Chris

From: "cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>" <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Wednesday, June 29, 2016 at 3:08 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: Re: [cis-pidd] DOCK8 mutation

Is the variant homozygous?

Prof Stuart Tangye | Head, Immunology Division
Head, Immunology & Immunodeficiency Lab
Garvan Institute of Medical Research
384 Victoria Street, Darlinghurst, NSW 2010<x-apple-data-detectors://1>

NHMRC Principal Research Fellow

Professor, St Vincent's Clinical School, Faculty of Medicine, UNSW Australia

T: + 61 (0)2 9295 8455<tel:+%2061%202%209295%208455> I M: + 61 (0) 413 390 306<tel:+%2061%20413%20390%20306>  I F: +61 (0)2 9295 8404<tel:+61%202%209295%208404>  I E: s.tangye at garvan.org.au<mailto:s.tangye at garvan.org.au>

www.garvan.org.au/resear<http://www.garvan.org.au/research/immunology/immunobiology-and-immunodeficiency>ch/<http://www.garvan.org.au/research/immunology/immunobiology-and-immunodeficiency>immunology/immunobiology-and-immunodeficiency<http://www.garvan.org.au/research/immunology/immunobiology-and-immunodeficiency>

On 30 Jun 2016, at 05:45, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Hi,

I was asked to see a 23m/o with severe AD and milk allergy after his local allergist sent HIES gene panel to GeneDX.  His DOCK8 sequence came back as follows: "Y1272C variant in the DOCK8 gene, which is of unknown significance."  Exon level array confirmed no duplications or deletions in DOCK8.  This variant has not been reported as benign, but per report noted to be present at a frequency of 0.36% in the 1000 genomes project. This amino acid change is predicted to change protein secondary structure.

The local allergist did some immune testing which demonstrated normal for age T and B cell numbers, normal immunoglobulin levels, protective tetanus antibody titer, and normal T cell proliferation to mitogens and tetanus toxoid.

Clinically, the child has been thriving.  He has had a few localized staph infections that responded to topical antibiotics.  He safely tolerated live vaccines. And his AD has improved with better skin care.

My suspicion is this is a benign variant.  I suggested the parents undergo genetic testing for targeted area.

Any other thoughts?

Thank you

Chris

Christine M. Seroogy MD,  FAAAAI
Associate Professor
University of Wisconsin School of Medicine and Public Health
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
1111 Highland Avenue
4139 WIMR
Madison, WI  53705-2275
phone: 608-263-2652
fax: 608-265-0164

---

You are currently subscribed to cis-pidd as: s.tangye at garvan.org.au<mailto:s.tangye at garvan.org.au>.

To unsubscribe click here: http://cts.dundee.net/u?id=103262218.b21b814fef95c2832d586fc21d80c566&n=T&l=cis-pidd&o=3720818

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3720818-103262218.b21b814fef95c2832d586fc21d80c566 at lyris.dundee.net<mailto:leave-3720818-103262218.b21b814fef95c2832d586fc21d80c566 at lyris.dundee.net>

NOTICE
Please consider the environment before printing this email. This message and any attachments are intended for the addressee named and may contain legally privileged/confidential/copyright information. If you are not the intended recipient, you should not read, use, disclose, copy or distribute this communication. If you have received this message in error please notify us at once by return email and then delete both messages. We accept no liability for the distribution of viruses or similar in electronic communications. This notice should not be removed.

---

You are currently subscribed to cis-pidd as: cmseroogy at wisc.edu<mailto:cmseroogy at wisc.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396468.6e28a86ce1555cf89cd74c4f18d7650b&n=T&l=cis-pidd&o=3720877

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3720877-96396468.6e28a86ce1555cf89cd74c4f18d7650b at lyris.dundee.net<mailto:leave-3720877-96396468.6e28a86ce1555cf89cd74c4f18d7650b at lyris.dundee.net>

---

You are currently subscribed to cis-pidd as: bodo.grimbacher at uniklinik-freiburg.de<mailto:bodo.grimbacher at uniklinik-freiburg.de>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396431.4f2a33ac30bfa58d3a76b5fb5b03d33a&n=T&l=cis-pidd&o=3721001

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3721001-96396431.4f2a33ac30bfa58d3a76b5fb5b03d33a at lyris.dundee.net<mailto:leave-3721001-96396431.4f2a33ac30bfa58d3a76b5fb5b03d33a at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3750880
or send a blank email to leave-3750880-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160719/d468531a/attachment-0001.html>