[CIS PIDD] [cis-pidd] STAT1 gof

[CIS-PIDD]

Unfortunately, there are not clear indications for HSCT per se. In the retrospective series we recently published, patients were transplanted for IPEX-like disease, CID, and severe infections. None were elective HSCTs but rather were done in the direst of circumstances. Overall survival was not great (~40%) and secondary graft loss was high. That being said, younger age was associated with higher survival. As Lisa mentioned, ruxolitinib has been remarkably successful in the treatment of immunodysregulatory and autoimmune features in GOF-STAT1, and how chronic use of ruxolitinib impacts overall disease control and necessity of HSCT is not well established. I am happy to talk more about this topic.

Jennifer Leiding, MD
Associate Professor
Medical Director – Multidisciplinary Immunology Service at JHACH
Division of Allergy and Immunology
Department of Pediatrics
University of South Florida
Johns Hopkins – All Children’s Hospital
jleiding at health.usf.edu


From: "cis-pidd at lyris.dundee.net" <cis-pidd at lyris.dundee.net> on behalf of "cis-pidd at lists.clinimmsoc.org" <cis-pidd at lists.clinimmsoc.org>
Reply-To: "cis-pidd at lyris.dundee.net" <cis-pidd at lyris.dundee.net>
Date: Wednesday, December 6, 2017 at 4:05 AM
To: "cis-pidd at lyris.dundee.net" <cis-pidd at lyris.dundee.net>
Subject: Re: [cis-pidd] STAT1 gof

Dear all,
We have a 3 yo girl with STAT1 GOF with the same phenotype as Joe’s patient. We are also planning ruxolitinib. My question is: when would you discuss with parents HSCT? What are the specific criteria of HSCT for STAT1 GOF?

Best regards,
Laia Alsina, MD, PhD


Adjunta de la Secció d'Immunoal.lèrgia; Unitat Funcional d'Immunologia, Hospital Sant Joan de Déu-Hospital Clínic.
Cap d'Estudis i Presidenta de la Comisió Local de Docència de l'Hospital Sant Joan de Déu, Barcelona.
http://orcid.org/0000-0002-3559-0018



El 6 dic 2017, a las 1:17, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> escribió:
Dear Joe and colleagues,

We have used Ruxolitinib in patients with STAT1 GOF and STAT3 GOF as young as 3 years 8months.  For the STAT1 GOF patients, from a laboratory perspective we have followed CBCs and liver panels for drug monitoring and followed STAT 1 phosphorylation and NK cell cytotoxicity and perforin levels as part of our research program.  The clinical response has been remarkable.  I am happy to discuss further details.

Best Regards,
Lisa

Lisa Forbes, MD
Assistant Professor, Department of Pediatrics
Immunology Allergy and Rheumatology
Center for Human Immunobiology, Medical Director
Interim Medical Director, Texas Children’s Hospital Infusion Center
1102 Bates, Suite 330
Houston, TX 77030
Phone: 832-824-1319
Fax: 832-825-1260

From: <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> on behalf of CIS-PIDD
Reply-To: CIS-PIDD
Date: Tuesday, December 5, 2017 at 5:45 PM
To: CIS-PIDD
Subject: [cis-pidd] STAT1 gof

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Colleagues:

I have followed a 7yo girl who has experienced chronic oral candidiasis, recurrent pneumonias and failure to thrive.  She is on IVIG for poor antibody responses to routine immunizations.

We are strongly considering treating her with ruxolitinib.

Has anyone treated STAT1 gof with ruxolitinib in a patient this young?

Other than monitoring her clinically, is there any lab changes that could reflect response to the medication e.g. TH17 numbers, memory B-cell numbers and IgG4 levels.

I would appreciate any suggestions.

Thank you.

Joe Church
Children’s Hospital Los Angeles

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