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

[Torgerson, Troy]

Juan Carlos,

Ofer Zimmerman, a fellow working with Gulbu Uzel and Steve Holland at the NIH, presented some nice data at the CIS meeting on the use of JAK inhibition in STAT1-GOF patients.  I would contact them.

Best,
Troy

Troy R. Torgerson, MD PhD

Associate Professor, Pediatric Immunology/Rheumatology
University of Washington, Department of Pediatrics

Director, Immunology Diagnostic Laboratory
Co-Director, Non-Malignant Transplant Program
Center for Immunity and Immunotherapies
Seattle Children's Research Institute
1900 9th Ave., C9S-7
Seattle, WA  98101-1305

Tel:  (206) 987-7317
Fax:  (206) 987-7310

Email:  Troy.Torgerson at seattlechildrens.org<mailto:Troy.Torgerson at seattlechildrens.org>

IDL Website:  www.seattlechildrens.org/IDL

From: Juan Carlos Aldave Becerra [mailto:jucapul_84 at hotmail.com]
Sent: Wednesday, May 06, 2015 3:56 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] Treatment of STAT1 GOF

Thank you very much for your invaluable suggestions.
With my best regards,
Juan

Juan Carlos Aldave, MD
Allergy and Clinical Immunology
Lima, Peru
________________________________
From: Andrew.Issekutz at iwk.nshealth.ca<mailto:Andrew.Issekutz at iwk.nshealth.ca>
To: cis-pidd at lyris.dundee.net<mailto: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<mailto: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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