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

[CIS-PIDD]

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<mailto: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<mailto:boaz.palterer at gmail.com>

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