[CIS PIDD] [cis-pidd] CMC and autoimmunity STAT1 GOF phenocopy clinical management

[CIS-PIDD]

Dear all,

CMC is resistant to nystatin, fluconazole and voriconazole.
It's responsive to IV echinocandines, however it comes back around a week
after the suspension of the infusions.
Is there any alternative for a long term chronic therapy?

@Megan: thank you for the response: STAT3 is normal (sequenced in the
context of an NGS panel), we are currently waiting for whole exome seq.

Boaz Palterer, MD
University of Florence
Senior resident in Allergology and Clinical Immunology
Department of Clinical and Experimental Medicine
cell. +39 392 7169114
e-mail. boaz.palterer at gmail.com


On Thu, Mar 31, 2016 at 4:04 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Dear Boaz,
>
>
>
> I would also consider STAT3 GOF, with the enteropathy and autoimmune
> cytopenias.  We don’t know the full spectrum of infections that these
> patients are susceptible to (and some patients do not get infections), but
> candida and herpesvirus infections have both been reported.
>
>
>
> Best,
>
>
>
> Megan
>
>
>
>
>
> Megan A. Cooper, MD, PhD
>
> Assistant Professor, Department of Pediatrics
>
> Division of Rheumatology
>
> Washington University School of Medicine
>
> Cooper_m at kids.wustl.edu
>
> Lab website:
> http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
>
> (lab office) 314-286-0262
>
> (lab fax) 314-286-2895
>
>
>
>
>
>
>
> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
> *Sent:* Thursday, March 31, 2016 8:04 AM
> *To:* CIS-PIDD
> *Subject:* [cis-pidd] CMC and autoimmunity STAT1 GOF phenocopy clinical
> management
>
>
>
> Dear all,
>
>
>
> I would like your advice on the clinical management for this patient:
>
> - 38y male. Early onset immunodeficiency with recurrent upper and lower
> airways infections and severe oropharingeal and esophageal candidiasis, at
> least one episode of proven mycotic pneumonia, and recurrent herpesviridae
> infections
>
> - Sprue-like enteropathy
>
> - history of severe Evans syndrome, requiring Rituximab treatment (with
> very good clinical response)
>
> - Alopecia universalis
>
> - Normal IgG1 and IgG3. Total IgA deficency, low IgM, IgG2, IgG4, low IgE
>
> - Modest lymphocytopenia (low B after rtx, ~500 CD4, ~300 CD8)
>
>
>
> Our first hypothesis was STAT1 GOF mutation. Functional flow cytometry
> tests were suggestive ( low Th17, low IL-17 and high IFNg production after
> PMA/Iono, high pSTAT1 after IFN) however genetic testing (Sanger seq all
> exones) did NOT confirm it. Confirmation and further testing are currently
> underway at CCI Freiburg.
>
>
>
> My questions:
>
> 1) Would you try treating him as a STAT1 GOF with GM-CSF and/or
> Ruxolitinib? Especially for the second one we are concerned with the risk
> of infections.
>
> 2) Fluconazole is ineffective, and new azoles or echinocandines grants
> only very short remissions of the candidiasis (~1 week). Do you have any
> suggestion for chronic fungal prophylaxis?
>
> 3) Any reccomandations from pre-odontoiatric operation antifungal and
> antibiotic prophylaxis?
>
>
>
> Kind regards,
>
>
>
> Dr. Boaz Palterer
>
> Resident in Allergology and Clinical Immunology
>
> Department of Clinical and Experimental Medicine
>
> University of Florence
>
> cell. +39 392 7169114
>
> e-mail. boaz.palterer at gmail.com
>
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