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

[CIS-PIDD]

Wasn’t the combination of anti-TNF and anti-IL6 and or anti IL1 the preferred cytokine blockade in these?
Yours, Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Breisacherstraße 115, 79106 Freiburg
bodo.grimbacher at uniklinik-freiburg.de
www.uniklinik-freiburg.de/cci

and

Consultant Immunologist
Institute of Immunity & Transplantation
Dept of Immunology
Royal Free Hospital
UNIVERSITY COLLEGE LONDON
Pond Street
London NW3 2QG
b.grimbacher at ucl.ac.uk
www.centreforimmunodeficiency.com

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Thursday 21 April 2016 23:10
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: RE:[cis-pidd] Patient with IL-10 receptor deficiency, VEO-IBD, and BADAS

Hello Roxanne,
We are trying Ustekinumab (Stelara) in one of our IL-10RB defect patient.
Her therapy has been interrupted by frequent abscesses, so haven’t seen a clear response so far.

Thanks,

Avni Joshi
Mayo Clinic


From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Thursday, April 21, 2016 3:57 PM
To: CIS-PIDD
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>



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