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

[dmvascon at usp.br]

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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