[CIS PIDD] [cis-pidd] Patient with very severe coccidiomycosis infection

[Rafael Firszt]

Dear Colleagues,

I have a 16 year old male with no significant past medical history who presented in February with 2-3 weeks of persistant shortness of breath and dry cough.  He was found to have a large right-sided pneumothorax. He needed several chest tubes to control it. During this procedure it was noted that he had a bronchopleural fistula which seemed to  have resulted from a ruptured bleb, cyst, or abscess. His chest tubes did not seem to help his lung disease either. At this point, he needed a video-assisted thorascopic surgery which was converted to open thoractotomy. Upon exploration in the OR the surgeons appreciated an "exudative, cottage cheese-like" collection and opacity. Cultures were sent and he was found to have Coccidiodes immitis/posadasii pneumonia.  His course has been extremely complicated with persistent right pneumothorax and ruptured cyst. He was also found to have multiple bronchocutaneous fistulas which have been repaired, but continues to have persistent pneumothorax.   Most recent surgical sampling has recovered Coccidioides despite prior treatment with amphotericin B and fluconazole. He is currently on new anti-fungal  therapy with voriconazole and caspofungin.

Labs obtained:

Normal DHR,  Normal Immunoglobulins, Normal responses to diphtheria, tetanus and pneumococcus, Normal lymphocyte enumeration, Normal mitogen response.  Normal pSTAT1 and pSTAT4 production (no MSMD).

He did have slightly low response to Candida on 1:200 dilution.

He also had low IL-17 expression.

Could this be Dectin-1/Card9 deficiency?  What about gain of function STAT1?

How would I test for these.  What about other suggestions?

Thanks for any help.

Rafael Firszt, MD

University of Utah





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