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

[CIS-PIDD]

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





> Le 2015-10-01 à 03:25, CIS-PIDD <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 
> 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
> www.centreforimmunodeficiency.com
> 
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