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

[CIS-PIDD]

Hi Ben,

I would wonder if he truly has APS1.  As you know, diabetes is actually not that common in APS1, and the only manifestation of the "classic triad" your patient has is adrenal insufficiency, although work from M. Lionakis at the NIH and others has expanded our understanding of this syndrome.  Your patient's manifestations sound more consistent with APS-2, which does not have an identified genetic association beyond HLA.  This is also associated with Celiac disease that can cause bad aphthous ulcers.

For the mucositis - I assume it is HSV negative and no evidence of IBD or Behcet's.  If not, you could consider treating like idiopathic recurrent aphthous ulcers.  We use prednisone for flares, and for maintenance use colchicine, azathioprine, or sometimes anti-TNF.  They can be quite severe and life-altering for some patients.

Megan


Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics, Division of Rheumatology
Director, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies at St. Louis Children's Hospital
Program Director, Pediatric Rheumatology Fellowship
Washington University School of Medicine
Cooper_m at wustl.edu<mailto:Cooper_m at 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 at lyris.dundee.net <cis-pidd at lyris.dundee.net> On Behalf Of CIS-PIDD
Sent: Friday, May 18, 2018 3:41 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Subject: [cis-pidd] APS-1 with negative AIRE sequencing

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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