[CIS PIDD] [cis-pidd] STAT3 GOF: other treatments than HSCT?

[CIS-PIDD]

Dear Ele,

I care for a young girl with STAT3 GOF with the same phenotype.  She required 24 hr BiPAP and her liver enzymes and GGT were quite elevated.  We decided to treat her with Tocilizumab, anti-IL-6, therapy starting in November.   She has had a good response for both liver and lung.  Her lungs responded quickly and she was able to come off Bipap during the day.  She now tolerates limited physical therapy with oxygen she is on Bipap during sleep.  After 3 doses, her liver enzymes and GGT have decreased by half.  Other colleagues have used it for liver disease and the effect has only been seen after the second dose.  Our patient's liver enzymes went up after the first dose, so we decreased the dose for the subsequent infusions.  She is tolerating it well.  We are compiling cases like this to write up the treatment experience, hopefully out this spring.  I am very happy to discuss this further.

Best of Luck,
Lisa
Lisa Forbes, MD
Assistant Professor, Department of Pediatrics
Baylor College of Medicine
Section of Immunology, Allergy, Rheumatology
Texas Children's Hospital
Texas Children's Hospital Center for Human Immunobiology, Medical Director



From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Thursday, February 4, 2016 at 6:45 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] STAT3 GOF: other treatments than HSCT?

Dear all,

I have a patient affected by STAT3 GOF with multiple organ involvement (including liver and lung) and it will be quite risky to try HSCT. Is anyone aware of other form of treatment? JAK inhibitor trials?

Any suggestion will be well appreciated.

Thanks.

Ele

*******************************************************************
Eleonora Gambineri, MD
Researcher/Assistant Professor

Department of "NEUROFARBA": Section of Child's Health
University of Florence

Department of Haematology-Oncology: BMT Unit
Department of Fetal and Neonatal Medicine: Rare Diseases,
"Anna Meyer" Children's Hospital

Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662606(BMT ward)
Fax +39 055 5662607
e-mail: eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto:e.gambineri at meyer.it>

********************************************************************


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