[CIS PIDD] [cis-pidd] 8yo girl with refractory IBD advise on further immunosuppressive treatment

[Michi]

CGD excluded?

Von meinem iPhone gesendet

Am 07.12.2014 um 19:41 schrieb "Keller, Michael" <MKeller at childrensnational.org>:

Hi Jane,

Were there any other notable findings from intestinal histology? 

Does she have any endocrine disease?  Wondering about the IPEX-like spectrum, or the recently described STAT3-GOF mutations.  

It's a bit later than the typically described onset age, but it may be worth sending IL10R functional testing while you are waiting for the exome results, particularly given how treatment refractory this child is.  

Best,
Mike

-------------------------

Michael D. Keller MD

Division of Allergy / Immunology

Children's National Health System
111 Michigan Ave NW, Room 1W-314B

Washington, DC 20010

Clinic: 202.476.3016
Office: 202.476.5843

Fax: 202.476.2280

www.childrensnational.org


From: Jane Peake [j.peake at uq.edu.au]
Sent: Sunday, December 07, 2014 7:17 PM
To: CIS-PIDD
Subject: [cis-pidd] 8yo girl with refractory IBD advise on further immunosuppressive treatment

I have recently been asked to see this girl that has been under the care of gastroenterology colleagues. They are asking what further immunosuppression may be appropriate to control her disease. She has responded poorly to previous immunosuppressive treatment trials. Any thoughts would be very much appreciated.
Kind regards
Jane

8 yo girl with early onset aggressive IBD (refractory proctitis). 
Blood has been sent for whole exome sequencing.

Background:
Multiple therapies trialled for aggressive proctocolitis including surgical and maximal medical therapies
History:
Age of onset at 5 years. Severe diarrhoea with blood and mucus, tenesmus and faltering growth
- Early colectomy w ensuing ileostomy and a number of exploratory laparotomies for suspected fistulisation/collections around age 6-8y
- limited response to multiple immune modulators including high dose steroids ( IV methylpred and oral pred), Sulfasalazine, AZT, 6MP
- Failed trials of infliximab (x4) limited / no response and complicated by intercurrent severe aphthous ulcerations and buccal/pharyngeal mucositis
- Possibly some mild response to azithromycin augmented with doxycilicine in recent past (last year) but no significant clinical improvement w ongoing proctitis
- Most recent endoscopy revealed marked lymphocytic oesophagitis with aphthous ulceration likely correlated w active IBD
 
Systems review:
Aphthous ulcerations as above. No arthritis. No skin rashes No description of uveitis or eye involvement, No bruising, No lymphadenopathy or hepatosplemegaly

Progress:
Most recent course of disease complicated by ~12 weeks of giant aphthous ulceration to buccal mucosa, active proctitis w suspected fistulisation and associated growth faltering/weight loss

Currently inpatient
- MRI shows probable coloenteric fistula and awaiting surgical opinion
- Commenced on bactrim for eradication of MRSA on buccal/tongue
- Commenced on azithromycin as immune modulator
- Oral dexamethasone washes to manage buccal disease
- No other immune suppression – awaiting possible further surgery
- Still on full enteral diet but clearly very limited solid/fluid intake w ensuing weight loss and crossing centiles


Immune function:
No evidence of other immune deficiency, autoinflammatory syndrome or other autoimmune condition 
-moderate hypergammaglobulinaemia(IgG:15 (7-15), IgA1.8 (0.7-2.5), IgM 0.9 (0.4-2.3)) but HIV negative
-Normal isohaemagluttinins 64
-Normal vaccine titers (tetanus)>1.11
- normal CBC
- Normal lymphocyte subsets (CD3: 1.49 (0.6-2.4), CD4:0.96 (0.4-1.6), CD8 0.5 (0.1-1.0), CD19 0.59 (0.08-0.58), CD56 0.34 (0.05-0.5),
- Normal ACE level
-Normal complement levels C3 1.22(0.9-1.8) and C4:0.35 (0.1-0.4) and CH50>1000 (>520)
-Negative ANA, ENA, dsDNA, antiSMA, anti LKM
-.Positive ASCA IgA 120 (<20), ASCA IgG 57 (<20) and PR3-ANCA: 72 (<20)
-Normal ferritin (requires regular iron infusions) but variable elevation on CRP 10-20 and ESR ~30
-No HLAB27 or HLAB51 testing yet
-Hypercellular bone marrow with reactive lymphocytes and some plamacytoid forms
---

The CIS-PIDD listserv is supported by:


The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: mkeller at childrensnational.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=202536700.bba161e2ff9c9e1b35b1386869d41ea1&n=T&l=cis-pidd&o=45819081

Confidentiality Notice: This e-mail message, including any attachments, is for the sole use of the intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply e-mail and destroy all copies of the original message.
---

The CIS-PIDD listserv is supported by:


The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: mialbert at gmail.com.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824376.584cd02af4cc0a002d8ed1c915f95649&n=T&l=cis-pidd&o=45819484
---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=45819527
or send a blank email to leave-45819527-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20141207/9581e460/attachment-0001.html>