[CIS PIDD] [cis-pidd] AW: HSCT for Nijmegen Breakge Syndrome

Wed Jul 27 07:17:28 EDT 2016

Dear Laia,
we are following a very similar patient (female, same age, same deletion, mild developmental delay, no malignancy, T-cells a little lower, developed bronchiectasis despite adequate SCIG replacement). We transplanted her from a MUD donor using the German Fanconi anemia regimen (GEFA03). Unfortunately she rejected. The family is very hesitant to go through transplant again, but if it ever happens, I personally would use something with a little more intensity like i.e. treo/flu. I think the data in our small BMT paper from 2010 show that at least patients 3, 4 and 6 tolerated  a "conventional" reduced intensity regimen quite well. Andy Gennery may weigh in on this as well with the data from additional transplants he has collected.
BR
Michael

PD Dr. med. Michael Albert
Oberarzt / Leiter Stammzelltransplantation
Kinder- und Jugendarzt / Kinderhämatologe/-onkologe

Dr. von Haunersches Kinderspital
Klinikum der Universität München
Lindwurmstr. 4, 80337 München

Tel.: (089) 4400-52811 (Pforte)
Tel.: (089) 4400-52785 (Büro)
Fax: (089) 4400-57171
E-Mail: michael.albert at med.uni-muenchen.de<mailto:michael.albert at med.uni-muenchen.de>

PD Dr. med. Michael Albert
Attending physician / Head Pediatric SCT
Pediatrics / Pediatric Hematology/Oncology

Dr. von Hauner Children's Hospital
Klinikum der Universität München
Lindwurmstr. 4, 80337 München
Germany

Tel.: +49 89 4400-52811 (Reception)
Tel.: +49 89 4400-52785 (Office)
Fax: +49 89 4400-57171
E-Mail: michael.albert at med.uni-muenchen.de<mailto:michael.albert at med.uni-muenchen.de>

www.klinikum.uni-muenchen.de<http://www.klinikum.uni-muenchen.de/>

[cid:image003.png at 01D1E809.39675CC0]
Das Klinikum der Universität München ist eine Anstalt des öffentlichen Rechts (AöR)

Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Gesendet: Mittwoch, 27. Juli 2016 11:28
An: CIS-PIDD
Betreff: [cis-pidd] HSCT for Nijmegen Breakge Syndrome

Dear all,

I wrould very much appreciate your advice regarding a 9yo female patient diagnosed with NBS with moderate immunodeficiency, in whom we are considering HSCT.

Not much is published and the risk-benefits are not that straight forward, specially in a moderate immunodeficiency that is doing considerably well on IVIG  (see below).

I would like to know based on your experience, in which situations you would consider HSCT in NBS, and If so, what would be your recommended conditioning regimen.

Familiar history: one healthy sister (from different father). Parents are both healthy too. No other relevant information.

Personal History:
- She had been diagnosed of Nijmegen Syndrome when she was 6 year-old because of a microcephaly (without mental retardation) and an associated immunodeficiency.  DNA analysis revealed an homozygous 657del5 mutation in the NBN (Nijmegen breakage syndrome) gene. Both studied parents are carriers for this mutation.

- Infections: During the first 5 years of life, the patient suffered 3 pneumonias, needing admission to hospital without other kind of infections. During the last year, she has had 5-6 pneumonias (2-3 of them treated at the hospital; we were unable to access to any documentation about these episodes). No other bacterial or viral infections are reported. We suspect the presence of bronchiectasies (although no CT was performed because of radio-sensitivity in NBS). She started with IVIG one year ago without any other prophylaxis and she continues suffering lung infections despite of the immunoglobulin replacement.

- The most recent immune analysis  (28/06/2016) is summarized in the next table:

Result

Normal range

Lymphocyte count (cells/mm3)

1.300

1900-3700

LT CD4+ %

20

31-47%

LT CD4+ count (cells/mm3)

260

650-1500

LT CD8+ %

18

18-35%

B lymphocyte %

4

13-27

B lymphocyte count (cells/mm3)

52

IgG (mg/L)

10901 (under treatment)

6630-13700

IgA (mg/L)

161

346-1910

IgM (mg/L)

423

446-1960

Proliferative response

NORMAL

B /T Subsets

Normal distribution

- No malignancies by now
- No other medical problems

Laia Alsina, MD, PhD

Attending at the Allergy and Clinical Immunology Department
Hospital Sant Joan de Déu, Barcelona
Immunology Unit, Hospital Sant Joan de Déu-Hospital Clínic.
ORCID ID: http://orcid.org/0000-0002-3559-0018

[cid:image001.png at 01D1E808.D1E4F300][cid:image002.jpg at 01D1E808.D1E4F300]

________________________________
No imprimir aquest correu ajudarà a preservar el medi ambient.
Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge.

No imprimir este correo ayudará a preservar el medio ambiente.
Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje.

---

You are currently subscribed to cis-pidd as: Michael.Albert at med.uni-muenchen.de<mailto:Michael.Albert at med.uni-muenchen.de>.

To unsubscribe click here: http://cts.dundee.net/u?id=101728361.943dd7d5a42a1825b83e481087cb251f&n=T&l=cis-pidd&o=3763350

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

or send a blank email to leave-3763350-101728361.943dd7d5a42a1825b83e481087cb251f at lyris.dundee.net<mailto:leave-3763350-101728361.943dd7d5a42a1825b83e481087cb251f at lyris.dundee.net>

---

You are currently subscribed to cis-pidd as: Michael.Albert at med.uni-muenchen.de<mailto:Michael.Albert at med.uni-muenchen.de>.

To unsubscribe click here: http://cts.dundee.net/u?id=101728361.943dd7d5a42a1825b83e481087cb251f&n=T&l=cis-pidd&o=3763350

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

or send a blank email to leave-3763350-101728361.943dd7d5a42a1825b83e481087cb251f at lyris.dundee.net<mailto:leave-3763350-101728361.943dd7d5a42a1825b83e481087cb251f 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=3763457
or send a blank email to leave-3763457-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160727/50ab5591/attachment-0001.html>
-------------- next part --------------
A non-text attachment was scrubbed...
Name: image001.png
Type: image/png
Size: 12902 bytes
Desc: image001.png
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160727/50ab5591/attachment-0002.png>
-------------- next part --------------
A non-text attachment was scrubbed...
Name: image002.jpg
Type: image/jpeg
Size: 11129 bytes
Desc: image002.jpg
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160727/50ab5591/attachment-0001.jpg>
-------------- next part --------------
A non-text attachment was scrubbed...
Name: image003.png
Type: image/png
Size: 6012 bytes
Desc: image003.png
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160727/50ab5591/attachment-0003.png>