[CIS PIDD] [cis-pidd] C4 deficiency, Cryoglobulinemia and Hypogammaglobulinemia

[CIS-PIDD]

I had to deal with a patient with granuloma positive for rubella in the context of an undefined Comibned Immune Deficiency (WES not contributing). Before we knew it was a rubella, we treated him with immunosuppressive drugs and it was clearly steroid sensitive. We even gave him Abatacept which had no efficacy but prednisone was very efficient. He became « steroid-dependant » for his granuloma. Then we transplanted him and now he is fine...
Therefore, if the QoL is impaired because of the granuloma in the context of AT where HCT is not a classical treatment, I would go with Prednisone.
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 2016-11-30 à 07:14, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> a écrit :
> 
> We are dealing with a similar 5 year old with AT and progressive skin lesions . Skin biopsy sent to Kate Sullivan to look for Rubella…not sure what it means if positive..considering starting Humira
> 
> 
> 
> Erwin W. Gelfand, M.D.
> Chairman, Department of Pediatrics
> National Jewish Health
> 1400 Jackson Street
> Denver, CO 80206
> Ph: 303-398-1196
> Fax: 303-270-2105
> E-mail: gelfande at njhealth.org <mailto:gelfande at njhealth.org>
> 
> From: CIS-PIDD <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: Tuesday, November 29, 2016 at 11:33 PM
> To: CIS-PIDD <cis-pidd at lyris.dundee.net <mailto:cis-pidd at lyris.dundee.net>>
> Subject: AW: [cis-pidd] C4 deficiency, Cryoglobulinemia and Hypogammaglobulinemia
> 
> Dear colleagues,
> 
> I am following a seven year old patient with ataxia teleangiectasia and skin granuloma positive for rubella vaccine virus. Granuloma slowly increase in size and significantly contribute to reduced quality of life. Parents are at present not considering hematopoetic stem cell transplantation as a therapeutical option. Does anyone have experience in treating these granulomas with e.g. antiviral drugs or interferons?
> 
> Yours sincerely,
> 
> Fabian Hauck
> 
>  
> Fabian Hauck, MD, PhD
>  
> Attending physician / Head Immunodeficiency Unit and Immunological Diagnostics Laboratoy
> Pediatrics / Pediatric Hematology and Oncology / Immunology (DGfI)
>  
> Dr. von Hauner Children’s Hospital
> Klinikum der Universität München 
> Lindwurmstr. 4, 80337 München
> Germany
>  
> Tel.: +49 89 4400-53931
> Fax: +49 89 4400-53964
> E-Mail: fabian.hauck at med.uni-muenchen.de <mailto:fabian.hauck at med.uni-muenchen.de>
>  
>  
> www.klinikum.uni-muenchen.de <http://www.klinikum.uni-muenchen.de/>
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