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

[dmvascon at usp.br]

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 

----- Mensagem original -----

> 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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