[CIS PIDD] [cis-pidd] Treatment of STAT1 GOF

[Juan Carlos Aldave Becerra]

Thank you very much for your invaluable suggestions.With my best regards,Juan
Juan Carlos Aldave, MDAllergy and Clinical ImmunologyLima, Peru

From: Andrew.Issekutz at iwk.nshealth.ca
To: cis-pidd at lyris.dundee.net
Subject: RE: [cis-pidd] Treatment of STAT1 GOF
Date: Wed, 6 May 2015 22:04:00 +0000








Dear Juan,



I would suggest contacting Raphaela Goldbach-Mansky at NIH:

email- goldbacr at arb.niams.nih.gov

She enrolled our pt., with SAVI (N Engl J Med 2014;371:507-18) in a JAK inhibitor study last year.



Regards,



Andrew Issekutz



From: Juan Carlos Aldave Becerra [jucapul_84 at hotmail.com]

Sent: Tuesday, May 05, 2015 1:06 PM

To: CIS-PIDD

Subject: [cis-pidd] Treatment of STAT1 GOF






Dear professors,
I have a 4-yr-old patient with STAT1 GOF mutation (P293L) and a poor clinical course (pneumonias, urinary tract infections, lupus-like disease) despite using every therapeutic
 tool available in Peru (prophylactic antibiotics, prophylactic antifungals, IVIG and G-CSF).
I wonder if you have or know about a clinical trial using Ruxolitinib or other novel therapy that accepts international patients. I would appreciate your kind responses.
Thank you very much.
With my best wishes,
Juan



Juan Carlos Aldave, MD
Allergy and Clinical Immunology
Edgardo Rebagliati Martins National Hospital
Lima, Peru







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