[CIS PIDD] [cis-pidd] Patient with IL-10 receptor deficiency, VEO-IBD, and BADAS

[CIS-PIDD]

Have you done any functional studies on IL10 signaling?  That would be helpful to assess whether this is really IL10R deficiency

Best

James

James Verbsky MD/PhD
Associate Professor of Pediatrics
Departments of Pediatrics and Microbiology
Medical Director, Clinical Immunology Research Laboratory
Medical Director, Clinical and Translational Research
Medical College of Wisconsin/Children's Hospital of Wisconsin
Milwaukee, WI  53226


From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Thursday, April 21, 2016 at 3:56 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] Patient with IL-10 receptor deficiency, VEO-IBD, and BADAS

Hi all, we have a 5 year old male with history of partial central diabetes insipidus, cortical blindness, and global developmental delay, was initially hospitalized with oral aphthous ulcers, persistent diarrhea with intermittent hematochezia, and perirectal fissures/ulcers. Upper endoscopy revealed aphthous ulcers in the esophagus and duodenum. Colonoscopy revealed deep ulcers and friable mucosa throughout his colon. Mucosal histology demonstrated acute esophagitis and focal areas of active ileitis and colitis. He was given a diagnosis of inflammatory bowel disease (IBD) and was placed on an elemental formula diet, antimicrobial therapy, and topical steroids for the perirectal disease.

Immunology evaluation revealed normal quantitative immunoglobulins, T/B/NK cell by counts, and dihydrorhodamine (DHR) assay.  In addition, he demonstrated a normal level of glucose 6-phosphate dehydrogenase, a positive myeloperoxidase stain, and normal flow cytometry for CD11a, CD11b, and CD18. IL-10 signaling defect was suspected and a serum IL-10 level was obtained. The patient had elevated serum IL-10 level of 26.9 pg/mL (normal <2 pg/mL). Genetic sequencing of IL10RA and IL10RB revealed a homozygous point mutation in IL10RA (Arg101Trp) consistent with IL-10R deficiency. Parents were found to be heterozygous for this mutation.

He had been clinically stable at home for many months on TPN and enteral metronidazole and ciprofloxacin.

He is currently admitted for increased stool frequency above baseline with hematochezia and oral thrush for two weeks. Beginning 4/11/16, his symptoms were also associated with rash. Biopsy revealed neutrophilic dermatosis, supportive of bowel-associated dermatosis-arthritis syndrome (BADAS). He developed BADAS while on metronidazole, and his IBD is currently flaring based on MRI findings at current admission. Case reports on BADAS suggest that in addition to controlling IBD better, steroids +/- antibiotics may be helpful. Of note, he developed the rash and IBD flare while on metronidazole.

At the CIS meeting last week in Boston, Dr. Scott Snapper discussed the use of Anakinra in very early onset IBD and IL10 receptor deficiency patients. Currently, there are no published reports with dosing recommendations for Anakinra in this condition.

Does anyone have any suggestions on how to manage BADAS or an IL10 receptor deficiency patient who is being evaluated for possible transplant?

Warmly,
Roxanne C. Oriel, MD
Fellow, Division of Allergy & Immunology
Hofstra Northwell School of Medicine
Cohen Children's Medical Center of New York
T 516.622.5070
F 516.622.5036
E roriel at northwell.edu<mailto:roriel at northwell.edu>



---

You are currently subscribed to cis-pidd as: jverbsky at mcw.edu<mailto:jverbsky at mcw.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396710.777d26b6da96d84a8b0d5e2d208337f2&n=T&l=cis-pidd&o=3600182

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3600182-96396710.777d26b6da96d84a8b0d5e2d208337f2 at lyris.dundee.net<mailto:leave-3600182-96396710.777d26b6da96d84a8b0d5e2d208337f2 at lyris.dundee.net>

The information contained in this electronic e-mail transmission and any attachments are intended only for the use of the individual or entity to whom or to which it is addressed, and may contain information that is privileged, confidential and exempt from disclosure under applicable law. If the reader of this communication is not the intended recipient, or the employee or agent responsible for delivering this communication to the intended recipient, you are hereby notified that any dissemination, distribution, copying or disclosure of this communication and any attachment is strictly prohibited. If you have received this transmission in error, please notify the sender immediately by telephone and electronic mail, and delete the original communication and any attachment from any computer, server or other electronic recording or storage device or medium. Receipt by anyone other than the intended recipient is not a waiver of any attorney-client, physician-patient or other privilege.

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3605805
or send a blank email to leave-3605805-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net