[CIS PIDD] [cis-pidd] APS-1 with negative AIRE sequencing

[CIS-PIDD]

Hello all,
I have a  38 yo male with APS-1 (diabetes mellitus, hypothyroidism, adrenal insufficiency, hypogonadism) but negative AIRE gene sequencing and no clinical evidence of ectodermal dysplasia.   His major issue currently is severe mucositis necessitating tube feeds and resulting in cachexia.  Treatments for the mucositis (and pain related to it) have included gabapentin, duloxetine, Tylenol, NSAIDs, MS Contin, oxycodone and hydroxychloroquine.  He has had a few episodes of oral candidiasis in the past but none recently and fungal swab or the mouth is negative and clinical no thrush is evident.  Biopsy of the tongue showed an ulcer with dense inflammation, and his DIF showed shaggy fibrinogen.  His indirect immunofluorescence was negative.  Derm has worked to optimized his nutrition/vitamin levels without improvement.

- Is this likely a phenocopy of the disease resulting from autoantibody production and is there a role for additional genetic sequencing?
- Any suggestions for treatment of the mucositis?

Thanks,

Ben

Benjamin L. Wright, MD | Assistant Professor | Allergy, Asthma & Clinical Immunology
Office Tel: 480.301.4284<tel:480.301.4284> | Fax: 480.301.9066<tel:480.301.9066>| Pager 127 or (79)1-5302 | wright.benjamin at mayo.edu<mailto:wright.benjamin at mayo.edu>
Mayo Clinic | 13400 East Shea Boulevard | Scottsdale, AZ 85259


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