[CIS PIDD] [cis-pidd] Inflammatory Bowel Disease and PIDs

[Yeşim Yılmaz Demirdağ]

Thanks Pere and James, that was very helpful.
Yesim



Yesim Yilmaz Demirdag, MD

Assistant Professor of Pediatrics

Division of Allergy and Immunology

Columbia University Medical Center

3959 Broadway Room 107N

New York, MY 10032

phone: (212) 305 2300

e-mail: yyd2101 at columbia.edu



On Tue, Oct 22, 2013 at 3:16 AM, Pere Soler Palacin <psoler at vhebron.net>wrote:


> Dear Yeshim, our protocol is not much different from James' one.

>

>

>

> *1st step*:

>

> Blood count

>

> IgG, IgM, IgA, IgE

>

> HIV testing

>

> DHR

>

>

>

> *2nd step*:

>

> CD25, FOXP3 (flow)

>

> XIAP (flow)

>

> IL-10 and IL-10r

>

> NK cytotoxicity (NEMO)

>

>

>

> STAT-5 only if short stature.

>

> WASp if low platelets.

>

> WB and genetic testing depending on previous results.

>

>

>

> Hope it helps.

>

>

>

> Pere.

>

>

>

> Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and

> Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant

> Professor. Universitat Autònoma

> de Barcelona.

> Passeig de la Vall d'Hebron 119-129.

> 08035 Barcelona. Spain.

> Tel: 0034934893140. Fax: 0034934893039.

> E-mail: psoler at vhebron.net; 34660psp at comb.cat. Web: www.upiip.com.

>

>

> No imprimir aquest correu ajudarà a preservar el medi ambient.

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>

> ----- Mensaje original -----

> De: "James Verbsky" <jverbsky at mcw.edu>

> Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>

> Enviados: Lunes, 21 de Octubre 2013 18:41:41

> Asunto: RE: [cis-pidd] Inflammatory Bowel Disease and PIDs

>

>  Things we look for

>

>

>

> CD25, Stat5b (should have poor mitogens, evidence of GH insensitivity in

> the latter)

>

> Foxp3 (Flow +/- sequence if flow normal)

>

> XIAP (can test NOD signaling with MDP or TriDAP)

>

> IL-10, IL-10receptor  (IL10 suppression assay will be abnormal in the

> latter)

>

> CGD (DHR)

>

>

>

> Best

>

> James

>

>

>

>

>

> *From:* Yeşim Yılmaz Demirdağ [mailto:dryesimyilmaz at gmail.com]

> *Sent:* Monday, October 21, 2013 9:21 AM

>

> *To:* CIS-PIDD

> *Subject:* [cis-pidd] Inflammatory Bowel Disease and PIDs

>

>

>

> Dear all,

>

> I would like to ask about your experience on when to investigate for PIDs

> in children with inflammatory bowel disease. We recently had an

> 18-month-old previously very healthy boy diagnosed with inflammatory bowel

> disease, he was found to have a rare mutation in *FOXP3*. We are now

> working with the GI team to establish an algorithm and I would appreciate

> any input.

>

> Thanks

>

> Yeshim

>

>

>

>

>

> Yesim Yilmaz Demirdag, MD

>

> Assistant Professor of Pediatrics

>

> Division of Allergy and Immunology

>

> Columbia University Medical Center

>

> 3959 Broadway Room 107N

>

> New York, MY 10032

>

> phone: (212) 305 2300

>

> e-mail: yyd2101 at columbia.edu

>

> ---

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