[CIS PIDD] [cis-pidd] Dock8 and IFN treatment

Thu Oct 1 17:19:52 EDT 2015

Hi, I would recommend evaluation for bone marrow transplant for your patient as really does sound consistent with DOCK8 deficiency.  Would be good to try and do transplant before things progress more.  I have used IFNalpha in DOCK8 deficiency to decrease the burden of warts with mixed success.  A couple patients have done well with this- tolerated and warts improved.  Others had trouble with tolerance and we stopped therapy- worsened eczema for one, and side effects such as high LFts, cytopenias and depression.  But, I would consider transplant strongly for your patient.
Alexandra

—
Alexandra Freeman MD
Laboratory of Clinical Infectious Diseases
NIAID, NIH
NIH, Bldg 10,Room 12C103
9000 Rockville Pike
Bethesda, MD  20892
Phone 301-594-9045
Fax 301-496-0773
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________________________________
From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Thursday, October 01, 2015 4:49 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] Dock8 and IFN treatment

Not to hijack the thread, but I am facing a similar dilemma.  I have a 28 year old woman with recurrent crops of vulvar carcinoma related to HPV, numerous flat facial warts, bronchiectasis, very low IgM levels, no response to carbohydrate antigen (pneumovax), and now sequence analysis shows duplication of a chunk of material on her DOCK 8 gene between exons 1 and 2, deleted exon 2, and deletion of exons 4 through 26.  It is not clear whether this is on a single gene or both genes, although phenotypically she seems to behaving as a DOCK 8 deficient patient.  Would she be a candidate for BMT?  I will say that her GYN surgeons (and myself) are very nervous about the rate of recurrence for the carcinomas.  Any other suggestions for treatment?

Thanks,
Michael H. Clayton, MD, MPH
Assistant Professor, UNM Pediatric ID/Immunology

On Oct 1, 2015, at 1:43 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear Bodo,
once his eyes does better, is it crazy to consider a BMT ?
Any donor ?
Or do you consider that his clinical phenotype is not severe enough to take this kind of risk ?
Worth discussing ?
All the best
Elie

Elie Haddad, MD, PhD,
Professor of Pediatrics, University of Montreal,
Head, Pediatric Immunology and Rheumatology Division,
CHU Sainte-Justine, 3175 Cote Sainte-Catherine
Montreal, QC, H3T 1C5, Canada
Ph: 1 514 345 4713
fax: 1 514 345 4897
e-mail: elie.haddad at umontreal.ca<mailto:elie.haddad at umontreal.ca>

Le 2015-10-01 à 03:25, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> a écrit :

Dear all,
Does somebody have experience with IFN treatment in Dock8 deficiency?
I follow a 47 yr-old patient with Dock8 deficiency.
I know, he is probably one of the eldest Dock8 patients alive, possibly as he has some very little residual Dock8 protein expression due to his specific splice site mutation in Dock8.
However, he has severe skin eczema and completely  lost vision on his left eye and has only some residual visibility on his right eye following herpes keratitis and CMV retinitis.
But are barely controlled under aciclovir plus valganciclovir treatment, giving him elevated liver values.
So with his eye-sight, we are with the back to the wall
My question is now:
Does somebody have experience with IFN treatment in Dock8 deficiency?
I know it has been successfully tried for skin lesions, but has anybody ever used it for viral infections of the eye?
Would you expect a worsening of the inflammation and thereby loss of vision?
He also has a cornea transplant on his right eye…
Any other idea?
Best,  Bodo

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

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci<http://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<http://www.centreforimmunodeficiency.com/>

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