[PAGID] sterile granuloma in NBS1

[Michael Albert]

Hi Javier,
yes there have been 6 cases transplanted in Europe (that we know of) and 5
are alive and well after reduced intensity conditioning. The remaining
patient died from bacterial sepsis after conventional conditioning.
We will present these cases at FOCIS at the PID satellite meeting as a
poster.
Michael


*Michael Albert, MD***

Assistant Professor

Department of Pediatric Hematology/Oncology

Head SCT Program

Dr. von Haunersches Kinderspital der LMU

Lindwurmstr.4

80337 München

Germany

Tel: +49 89 5160 2811

Fax: +49 89 5160 4719


On Tue, Jun 2, 2009 at 5:26 PM, Belohradsky, Bernd Prof.Dr. <
Bernd.Belohradsky at med.uni-muenchen.de> wrote:


> Michael.Albert at med.uni-muenchen.de

>

> This is the e-mail adress of the first author (Michael Albert) of the

> mentioned FOCIS report;

> Kind regards, Bernd H.Belohradsky

>

> -----Ursprüngliche Nachricht-----

> Von: pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] Im Auftrag von Chinen, Javier

> Gesendet: Dienstag, 2. Juni 2009 16:43

> An: 'pagid at list.clinimmsoc.org'

> Betreff: Re: [PAGID] sterile granuloma in NBS1

>

> I found one case reported in the literature of a Nijmegen Sx treated with

> BMT because of the development of lymphoma. I heard of other 5 cases in

> Europe, with good survival and was told this was going to be presented in

> the FOCIS meeting, in two weeks.

> Javier

>

> -----Original Message-----

> From: pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] On Behalf Of Jack Bleesing

> Sent: Tuesday, June 02, 2009 8:31 AM

> To: 'pagid at list.clinimmsoc.org'

> Subject: Re: [PAGID] sterile granuloma in NBS1

>

> Thanks for the update.

>

> If you know (researched), can you tell us what the BMT experience is in

> this disorder?

>

> Regards,

> JB

>

> ---------------------------------------------------------------------------

> Jack J.H. Bleesing, M.D., Ph.D.

> Associate Professor of Pediatrics

> Cincinnati Children's Hospital Medical Center

> Division of Hematology/Oncology

> 3333 Burnet Avenue, MLC 7015

> Cincinnati, OH 45229

> 513-636-4266 (phone)

> 513-636-3549 (fax)

> Jack.Bleesing at CCHMC.org

> http://www.cincinnatichildrens.org/immunodeficiencies/

>

>

> >>> "Chinen, Javier" <jxchinen at texaschildrens.org> 6/1/2009 3:01:01 PM >>>

> Dear Drs Anis, Vaconcelos, Gewurz,

> Thank you for your comments and references. Sarcoidosis was considered

> unlikely based on the mix of caseating and non-caseating granulomas, and the

> rather peripheral distribution of the lesions.

> The report from Sidbury et al seems to be the only one published presenting

> Nijmegen syndrome with granuloma, which is non-necrotizing and limited to

> skin. Our patient is lymphopenic (ALC 720), and although his % NK cells is

> somewhat elevated (~14%), it is reciprocal with the decreased B cell (~6%).

> Absolute numbers are depressed. He does not have detectable IgA, IgM, IgE.

>

> Thnks,

> Javier

>

>

>

>

> ------------------

>

>

> On May 29, 2009, at 1:18 PM, Chinen, Javier wrote:

>

> >

> > Dear Dr. Kirkpatrick, Jack, Chris,

> > I very much appreciate your interest and suggestions.

> > Wegener's was early in our differential, our pathologists ruled it

> > out based on lack of vascular compromise. We didn't measure

> > antibodies since he is IVIG dependent.

> > We have done cultures aerobic, anaerobic, fungal and AFB from every

> > site at least twice each site now, without any organism recovered

> > or seen in the staining. I asked our pathologists to take a second

> > look at the first biopsy, and it was only when a fellow spent some

> > time looking at the slides that she saw the rare AFB, actually

> > FITE. We have not studied the IFN-g/IL12 axis, considering that at

> > this time we are not sure this is a mycobacterial infection.

> > Have tried the Nijmegen center though a different person with no

> > response, will try your suggestion

> > Thanks

> > Javier

> >

>

>

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