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

[Daniel Conway]

If systemic steroids were successful, one may consider triamcinolone dental paste.  

Sincerely,
Daniel H. Conway, MD
Assistant Professor of Pediatrics
St. Christopher's Hospital for Children
Drexel University College of Medicine

> On Sep 20, 2014, at 11:51 AM, "Laham, Federico R." <Federico.Laham at orlandohealth.com> wrote:
> 
> Dear Elena,
> 
> I saw a 7 year old girl with suspected STAT1 GOF mutation, her father has a confirmed diagnosis. She broke into these same aphthous ulcers you described after receiving amoxicillin for a ear infection.  Her father say the same thing would happen to him. They cannot take penicillin as the reaction is nearly predictable. Mouth cultures were also negative for herpes. Orajel or magic mouth washes provided very little relief.  Curiously she did not experience significant issues with fungal infections, but common infections appear to last longer.
> 
> Her father stated that the ulcers would also present sporadically, but he 'learnt to live with them'.
> 
> Best wishes,
> 
> Federico Laham, MD
> Arnold Palmer Hospital for Children
> Orlando, Florida
> 
>> On Sep 19, 2014, at 7:01 PM, Elena Hsieh <whsieh at stanford.edu> wrote:
>> 
>> 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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