[CIS PIDD] [cis-pidd] diagnostic dilemma in infant with early onset IBD

[CIS-PIDD]

Nod2. 

Leonardo Oliveira Mendonça
Médico Especialista em Imunologia Clínica e Alergia, Doenças Autoimunes e Autoinflamatórias
Médico Especialista em Clínica Médica/Medicina Interna

Leonardo Oliveira Mendonça, MD
Specialist in Clinical Immunology and Allergy, Autoimmune and Autoinflammatory disorders
Consultant Specialist in Internal Medicine

E-mail: leonardo.oliveira.mendonca at gmail.com
Telefone/Phone Number: +55-11-3864-2246
Endereço/Adress: rua Heitor penteado, 477 - Sumarezinho - São Paulo - Brasil

> On Dec 30, 2016, at 6:42 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> Hi all:
>  
> I am hoping to get diagnostic advice about a patient that Dr. Mark Ballow and I follow. He is a 2 year old Caucasian male with many anatomical abnormalities who presented with very early onset colitis and failure to thrive at about 6 months of age. He is profoundly small <<<1% for weight. Endoscopy and colonoscopy show: gastritis, duodenitis, ileitis, nodular hyperplasia, and colitis. No granulomas were visualized. This patient has profound diarrhea that is sometimes bloody. Calprotectin is always >200.
>  
> Anatomical abnormalities include:
> Cloacal exstrophy of the urinary bladder
> Imperforate anus
> Polydactyly of the foot
> Sacral agenesis
>  
>  
> Chromosomal microarray was normal
> ALC 6292, CD3 3757, CD4 2162, CD8 1196, CD56 949, CD19 1518
> DHR  normal
> IgG 696, IgA 36, IgM 74, IgE 9.16
> FOXP3 expression by flow: normal
> Normal NK cell function
>  
> An IBD panel was performed at Emory Genetics sequencing the following genes. No mutations were found in any.
> ADAM17, AICDA, ATG16L1, BtK, C1orf106, CD40LG, COL7A1, CYBA, CYBB, DCLRE1C, DOCK8, ERAP2, FERMT1, FOXP3, FUT2, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IL10, IL10RA, IL18RAP, IL23R, IL2RA, IRGM, ITGAM, LRBA, MEFV, MVK, NCF2, NCF4, NOD2, PIK3R1, PLCG2, PTEN, PTPN22, RAC2, RB1, RET, SH2D1A, SLC37A4, STAT1, STXBP2, TTC37, WAS, XIAP.
>  
> Short of doing WES, is there any candidate genes that anyone suggests we look at or any additional testing that we should do?
>  
> Thanks and Happy New Year,
> Jen Leiding
> ---
> 
> You are currently subscribed to cis-pidd as: leonardo.oliveira.mendonca at gmail.com.
> 
> To unsubscribe click here: http://cts.dundee.net/u?id=96396764.5d5926a8e01f475d7bf6717a52d027f0&n=T&l=cis-pidd&o=4099251
> 
> (It may be necessary to cut and paste the above URL if the line is broken)
> 
> or send a blank email to leave-4099251-96396764.5d5926a8e01f475d7bf6717a52d027f0 at lyris.dundee.net

---
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=4099280
or send a blank email to leave-4099280-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20161230/b95a5849/attachment-0001.html>