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

Wed Nov 30 11:41:23 EST 2016

Thanks Elie
We  tried a significant course of prednisone without any response and progression continued.
Any thoughts on what rubella is driving in the lesions. I know there is old literature on Rubella causing thymocyte depletion, so perhaps there is local interference with T cell host defense or a skewing leading to granuloma formation.

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: Wednesday, November 30, 2016 at 9:27 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: Re: [cis-pidd] C4 deficiency, Cryoglobulinemia and Hypogammaglobulinemia

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<mailto:elie.haddad at umontreal.ca>

Le 2016-11-30 à 07:14, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto: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/>

<image001.png>

Das Klinikum der Universität München ist eine Anstalt des öffentlichen Rechts (AöR)
The Klinikum der Universität München is an Institution under Public Law

---

You are currently subscribed to cis-pidd as: gelfande at njhealth.org<mailto:gelfande at njhealth.org>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396547.ce55188acfe7ac06c89e6d79f145cfcf&n=T&l=cis-pidd&o=4030870

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

or send a blank email to leave-4030870-96396547.ce55188acfe7ac06c89e6d79f145cfcf at lyris.dundee.net<mailto:leave-4030870-96396547.ce55188acfe7ac06c89e6d79f145cfcf at lyris.dundee.net>

NOTICE: This email message is for the sole use of the intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply email and destroy all copies of the original message.  

---

You are currently subscribed to cis-pidd as: elie.haddad at umontreal.ca<mailto:elie.haddad at umontreal.ca>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396514.54eb7da7d93cf91f012ad7a90560a39a&n=T&l=cis-pidd&o=4031378

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

or send a blank email to leave-4031378-96396514.54eb7da7d93cf91f012ad7a90560a39a at lyris.dundee.net<mailto:leave-4031378-96396514.54eb7da7d93cf91f012ad7a90560a39a at lyris.dundee.net>

<image001.png>

---

You are currently subscribed to cis-pidd as: gelfande at njhealth.org<mailto:gelfande at njhealth.org>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396547.ce55188acfe7ac06c89e6d79f145cfcf&n=T&l=cis-pidd&o=4031985

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

or send a blank email to leave-4031985-96396547.ce55188acfe7ac06c89e6d79f145cfcf at lyris.dundee.net<mailto:leave-4031985-96396547.ce55188acfe7ac06c89e6d79f145cfcf 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=4032018
or send a blank email to leave-4032018-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20161130/7b0e8573/attachment-0001.html>