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

Wed May 6 22:01:43 EDT 2015

Agree with discussing with Steve Holland.  At low doses with two patients the laboratory data looked good, but clinically the infections seemed worse.  Hard to know why at this point. Happy to connect you if you would like.
Best,
Alexandra

Alexandra Freeman MD
Laboratory of Clinical Infectious Diseases
NIAID, NIH
NIH, Bldg 10,Room 12C103
9000 Rockville Pike
Bethesda, MD  20892
Phone 301-594-9045
Fax 301-496-0773
freemaal at mail.nih.gov<mailto:freemaal at mail.nih.gov>

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________________________________
From: Torgerson, Troy [troy.torgerson at seattlechildrens.org]
Sent: Wednesday, May 06, 2015 8:32 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] Treatment of STAT1 GOF

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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