[CIS PIDD] [cis-pidd] STAT1 GOF treatment options

Sat Sep 20 15:53:33 EDT 2014

I have had success with aphthous ulcers in several settings using a topical
application, Debacterol. It is easier and less uncomfortable than silver
nitrate sticks. I recommend twice daily hydrogen peroxide, 120ml to swish
and spit. OTC hydrogen peroxide 3% is mixed 1:1 tepid water.

After the last string on oral ulcers I received the following
recommendation form a list-serve member who didn't post. I have no
experience with this product.

It’s called Rincinol by Sunstar.  Ingredients: sodium hyaluronate,
polyvinylpyrrolidone, and aloe vera extract in a flavored  PEG base.
Patient swishes 10ml around the mouth x1 min and spits.  It soothes,
hastens healing, doesn’t sting, tastes a little better than peroxide, and
provides a thin barrier that prevents irritation from food and liquids.
Can be used prn.
http://www.gumbrand.com/oral-pain-relief/gum-rincinol-mouth-rinse-1770r.html

I don't believe there is a solution to this problem, just ways of helping
the patient feel more comfortable.

Richard Wasserman
Dallas

On Sat, Sep 20, 2014 at 2:41 PM, <dmvascon at usp.br> wrote:

> Dear Elena, good afternoon
>
> As you stated, nysatatin is very difficult to use due to the very low
> compliance of the patients. Use of any medication qid is very difficult.
> In the family of the CMC+SLE patient that I told earlier, her two
> daughters are also affected and, when they were infants, we used nystatin
> vaginal tablets inside a pacifier with a small hole at the tip. This
> approach worked very well.
>
> In the other family that I told you, in which we needed to use IV
> amphotericin, we previously tried to treat in the same way with nystatin,
> convincing the patient to suck a vaginal tablet like a candy. Despite a
> significant improvement of the mouth lesions, the patient dropped out of
> treatment due to the horrible taste of the vaginal tablets, according to
> his report.
>
> I also agree with previous comments of the possibility of herpesvirus
> associated lesions and the use of topical steroids (here in Brazil we have
> triamcinolone in orabase) that is very helpful for mouth sores and aphtae.
> Maybe GM-CSF can help, but I am not aware of the real cost-benefit of the
> use of this drug.
>
> Good luck with your patient.
>
> Best regards,
>
> Dewton
>
> ------------------------------
>
> *De: *"Elena Hsieh" <whsieh at stanford.edu>
> *Para: *dmvascon at usp.br
> *Enviadas: *Sábado, 20 de Setembro de 2014 0:34:02
> *Assunto: *Re: [cis-pidd] STAT1 GOF treatment options
>
> Hi Dewton,
>
> Thanks for your response.
>
> We have tried nystatin many times, but never worked.
>
> She does have depressed IL17 production based on flow assay.  She is not
> currently on any immunosupressive therapy, just on GCSF but not making much
> headway.
>
> Hopefully the IV medication can help.
>
> Thanks for your reply.
> Elena
> On Sep 19, 2014, at 16:26, dmvascon at usp.br wrote:
>
> Dear Elena, good evening
>
> We must take exterme care with STAT1 GOF patients, as they are prone to
> more severe infections than other CMC patients.
>
> As they are more susceptible to neoplastic transformation (Candida
> produces nitrosamins that can lead to squamous cell carcinoma in the mouth
> and esophagus), we use routinely nistatin for mouthwashes and gargles,
> followed by swallowing 4 times a day. It is important to remind that they
> sometimes are infected by non-albicans Candida (glabrata, parapsillosis,
> tropicalis) that are commonly resistant to imidazols, occasionally we treat
> aggressively (with IV echinocandins or amphotericin) for two weeks in order
> to sterilize the esophagus, followed immediately by an imidazolic drug
> continuously.
>
> We only immunossupress if there is clear evidence of severe autoimmune
> disease.
> We follow a STAT1 GOF patient with CMC and systemic lupus erythematosus
> for more than 20 years (she was at the rheumatology before) and she was
> immunossupressed with corticosteroids and azathioprine leading to severe
> candidemia due to neutropenia. When she came to our clinic we biopsied the
> kidney (she presented nephrotic syndrome loosing more than 20 grams of
> proteins per day) and, as her lesion was not so severe we gave only
> steroids tapering to the low as possible (now with 5 mg of prednisone for
> several years and OK).
>
> It is important to remind that they present low IL-17 family cytokines but
> high IFN-gamma and a high risk of developing autoimmune manifestations.
>
> Hope it helps.
>
> All the best,
>
> Dewton
>
> Dewton de Moraes Vasconcelos, MD, PhD
> University of São Paulo School of Medicine
>
> *De: *"Elena Hsieh" <whsieh at stanford.edu>
> *Para: *"CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>
> *Enviadas: *Sexta-feira, 19 de Setembro de 2014 20:00:15
> *Assunto: *[cis-pidd] STAT1 GOF treatment options
>
> Hi there,
>
> We have a 16yo girl with STAT1 gain of function mutation, with CMC, oral
> cavity and esophagus in the past.  Her main issue is that she has recurrent
> episodes of painful oral ulcers and sores.  She also has trouble and pain
> swallowing, to the point where she gets admitted for IV hydration and pain
> management with opiate PCA.  Culture from these lesions do not often grow
> candida, but her esophageal scope demonstrated positivity for candida
> stains.
>
> She has been treated with multiple antifungals, including fluconazole,
> voriconazole, now IV caspofungin for this current episode.
>
> As far as immunosupression, given these lesions do not always seem to be
> fungal, she has been treated with methotrexate and plaquenil in the past
> without much benefit.  She does respond to systemic steroids sometimes, but
> is not a good long term plan.  We just recently started her on GMCSF based
> on the JACI report from 2013, but we had tried that in the past without
> much benefit either.
>
> Any additional suggestions?
>
> Thanks.
>
> Elena Hsieh, MD
> Allergy and Immunology
> Instructor
> Stanford University
>
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-- 
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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