[CIS PIDD] [cis-pidd] CMCC with gof STAT1 mutation

[Anders Fasth]

Dear all,
I have in my care a 4.5 year old girl with all too typical CMCC with STAT1 mutation. CMCC, lungempyema with pneumococci, Breakthrough Candida infections while on Diflucan. alopecia etc. 

My questions to you is: 
1. Do any of you have the experience to treat a child with ruxolitinib? If so - dose, results, side effects, precautions?   
2. Do you know who can look at phosphorylation of STAT1?. This as her mutation in a not earlier described one, but affecting a highly conserved aa. 

Thank you all in advance 

Best

Anders




Anders Fasth, MD, PhD
Professor of Pediatric Immunology, 
Dept of Pediatrics, University of Gothenburg
Address: The Queen Silvia Children’s Hospital,
SE-416 85 Göteborg, Sweden
Tel +46-31-343 5220 (343 4000 switchboard)
Mobile +46-70-0852717 (work)
Mobile +46-70-687 5970 (private) 
Fax +46-31-707 0694

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Thank you

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