[CIS PIDD] [MARKETING][cis-pidd] Advise on a patient with Kabuki Syndrome-CVID and ILD

[CIS-PIDD]

Hi Eleanora,

I had one now deceased (due to lung complications) Kabuki with CVID -like manifestation who had a granulomatous CVID phenotype and GLILD/LIP, years ago. Steroids back then helped about = 0 (zero).

Due to the EBV, RTX sounds good, I wonder if for example Charlotte or Jack (John Routes) have  more experience on Kabuki cases? Based on my n=1, your patient may well have a quickly progressive and deadly complication. I am not happy about how we succeeded...

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 16.3.2016 kello 15.24:




Dear all,

I would like to ask you an advice on a 18 y/o patient affected by Kabuki syndrome with autoimmunity (mainly AIHA) and dysgammaglobulinemia (due to impaired B cell developmend and isotype switching which is found in Kabuki). He is basically behaving as a CVID with elevated IgM, low IgG and absent IgA. He is on weekly scIg. He is also on MMF with good control of autoimmune cytopenias.
He was recently admitted for an episode of low blood oxygen concentration while he was well being. He did lung CT scan that showed imaging compatible with ILD. His BAL is full of inflammatory cells and low copies of EBV (600/ml). His CD4 counts are normal (few naive).
I have seen recent publications from Charlotte on pulmonary radiological findins in CVID patient and I think he fits the ILD cohort (he also has elevated monocytes at CBC).Surely he will need a lung biopsy to confirm the suspect.

I have looked at treatment options and I have seen that this condition improves on steroids, however he has a severe osteoporosis and I would like to avoid this option. Based on literature other options might be CsA, azathioprine, Rituximab...He is already on MMF, but apparetly is good to control the cytopenia, but not the lung condition. Do you use other IS drugs? Sirolimus?

I would really appreciate your inputs.

Best wishes,
Eleonora
*******************************************************************
Eleonora Gambineri, MD
Researcher/Assistant Professor

Department of "NEUROFARBA": Section of Child's Health
University of Florence

Department of Haematology-Oncology: BMT Unit
Department of Fetal and Neonatal Medicine: Rare Diseases,
"Anna Meyer" Children's Hospital

Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662738(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto:e.gambineri at meyer.it>
********************************************************************



---

You are currently subscribed to cis-pidd as: mikko.seppanen at hus.fi<mailto:mikko.seppanen at hus.fi>.

To unsubscribe click here: http://cts.dundee.net/u?id=99266512.00d254228cd4b291924022bf56fac1f0&n=T&l=cis-pidd&o=3529324

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

or send a blank email to leave-3529324-99266512.00d254228cd4b291924022bf56fac1f0 at lyris.dundee.net<mailto:leave-3529324-99266512.00d254228cd4b291924022bf56fac1f0 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=3529373
or send a blank email to leave-3529373-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160316/0d2650b9/attachment-0001.html>