[CIS PIDD] [cis-pidd] DOCK8 mutation

[CIS-PIDD]

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


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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







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