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

[Forbes, Lisa R.]

Dear Elena and colleagues,
 
Patients with STAT1 GOF can also be susceptible to autoimmune disease as well as herpes viral infections. Have you looked for HSV as an etiology for the ulcers? 

Best,
Lisa 

Lisa Forbes,MD
Assistant Professor, Immunology Allergy and Rheumatology
Texas Children's Hospital Center for Human Immunobiology, Medical Director
Baylor College of Medicine, Houston,TX 

Sent from my iPhone

> On Sep 19, 2014, at 6:02 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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