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

[CIS-PIDD]

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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