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

Wed May 6 23:20:44 EDT 2015

Thanks Alexandra
I will present it to the parents tomorrow
If they give us permission to use it I or mr resident Pam Peterson will reach out to you
Thanks again

Javeed Akhter

> On May 6, 2015, at 9:17 PM, Freeman, Alexandra (NIH/NIAID) [E] <freemaal at mail.nih.gov> wrote:
>
> 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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