[CIS PIDD] [cis-pidd] AW: SCIG or IVIG in Netherton syndrome?

Tue Jan 10 05:14:21 EST 2017

Hi Fabian,

thank you for bringing up this important topic.

With the generosity of Hans and our cooperations partners offering me to continue with this project and under DFG funding, my group and I took lots of effort on trying to solve the impact of LEKTI (the protein missing in Netherton`s disease) on the immune system when I returned from Seattle to LMU Munich. However, I have to admit that we did not get much further than already proposed in the paper Hans mentions:

LEKTI as a broad chaperone on the interplay of epithelial cells (the solarly cells expressing LEKTI) and “floating” immune cells.

>From a clinical standpoint and as Hans said: Lots of patients and physicians consulted us over the years and almost all reported the beneficial effect of IgRT. However, some patients responded better than others and there is this idea why but not details figured out yet.

I think there is meanwhile a common sense that IgRT is essential to manage newborn kids in regards to gaining weight and prevent fatal sepsis particularly in the first years of life as Hans mentions. And one of these newborns who really benefited so well - since she was twice admitted at Children`s LMU Munich in her first months of life due to almost fatal sepsis prior that we started her on IgRT and than she really started recovering and gaining weight- should still be followed at your immunologic outpatient clinic. She should be about 8 years of age by now.

We already raised the question in the paper: Can one stop IgRT at some point as patients seem to built up a reasonable immune competence over the years and is this response just slower building up as to the impaired epithelial matrix due to LEKTI deficiency but at some age sufficently?

In the clinical part of the DFG funded project we investigated therefore the growing group of Netherton patients we were able to follow and got referred and continued to assess those with the deep immune phenotyping I was able to transfer from Seattle and established partly at the immune diagnostic lab you are now heading as my follow-up.

Thereby, there was/is also a close cooperation with Professor Andreas Wollenberg and the Dermatology LMU Munich. We, Andreas and I, offered to publish those observations as a first author under our guidance to a habilitation candidate several years ago.

Our data did not got out yet and it might be worthwhile to look into that maybe by even setting up an international (e.g. ESID registry based survey) to profoundly answer the question how older Netherton patients should be managed best.

Netherton disease is such a devastating disease and it would be so great to be able to help those patients more sufficiently.

Kind regards,

Ellen

Ellen D Renner, MD, Dr. med.

Professor of Translational Immunology

Environmental medicine, Klinikum rechts der Isar

Technische Universität München

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Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Gesendet: Dienstag, 10. Januar 2017 06:58
An: CIS-PIDD
Betreff: [cis-pidd] AW: SCIG or IVIG in Netherton syndrome?

Dear Hans,

thank you for your response. I certainly appreciated tha 2009 JACI article of your group.
We have the same impression that IVIG and SCIG ameliorate the disease severity. However, at least to me the mechanism behind this is not clear.
As Netherton syndrome tends to improve with age I am wondering how to proceed in adolescents and AYAs. Should we just stop adjusting the dosage to their body weight?

Regards, Fabian

Von: Ochs, Hans [mailto:hans.ochs at seattlechildrens.org]
Gesendet: Montag, 9. Januar 2017 22:16
An: CIS-PIDD
Cc: Hauck, Fabian Dr. Dr.med.; Seppänen Mikko
Betreff: RE: SCIG or IVIG in Netherton syndrome?

Fabian,
The immune aberrations in Netherton syndrome were evaluated by Ellen Renner, while here in Seattle.
JACI 2009
While IVIG had clearly a positive effect on the management of Netherton, it did not cure the disease.
We recommend IVIG (or SCIG) for affected children which makes the management of these patients much easier.
hans

Hans D. Ochs, MD, Dr. med
Professor of Pediatrics | Jeffrey Modell Chair of Pediatric Immunology Research
Center for Immunity and Immunotherapies
Seattle Children's Research Institute | University of Washington

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From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Monday, January 09, 2017 5:23 AM
To: CIS-PIDD
Subject: [cis-pidd] VS: SCIG or IVIG in Netherton syndrome?

Netherton belongs to Finnish Disease Heritage PIDs like CHH, APECED, AICDA deficiency.
We have started it now to I think three individuals (the last I heard). We yet have no long-term follow up information.

Patients thus far seem to subjectively benefit from it, but they are actually mainly followed up by our dermatologists.

Fabian, I will connect you with our dermatologists in charge of this, outside Listserv, you may get more precise info from them. AFAIK, all get IVIG, Netherton skin makes one hesitant to use SCIG.

ATB

Mikko

Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Lähetetty: 9. tammikuuta 2017 14:56
Vastaanottaja: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Aihe: [cis-pidd] SCIG or IVIG in Netherton syndrome?

Dear All,

I would like to ask your opinion and/or experience in treating patients with Netherton syndrome with s.c. and/or i.v. immunoglobulin. Published data is scarce and I can not find strong evidence to do so.

Thank you in advance, Fabian

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
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