[CIS-PAGID] Help with consult

[Notarangelo, Luigi]

Agree with Kate. I have cared for 4 infants with SCID and multiple intestinal atresia. Most of these infants die early in life and they invariably show profound hypogam and severe lymphopenia (especially CD4). There is a tendency to do bone marrow transplant (we just did one in a baby identified with undetectable TRECs as part of newborn screening for SCID). However, it is fair to say that little is known about long-term outcome of those who did not receive BMT. There is one case that was followed here who attained immune reconstitution after combined small bowel and liver transplant (the latter was done because of severe damage while on TPN).
I would suggest to look at TRECs, analyse T cell function and naive/memory phenotype also of CD8 cells.
Deciding whether this patient needs a hematopoietic cell transplantation is important before you proceed with small bowel Tx.
If of interest, we have done exome sequencing on 7 families with this disease (the 4 I followed plus 3 more collected around the world). Three of these were consanguineous (so we have very high chances of finding the gene). Results are pending. If you are interested to participate and willing to send me a blood sample from family members (5 ml EDTA blood would suffice) let me know. I would send you copy of consent form to sign.

Sincerely

Luigi D. Notarangelo
Professor of Pediatrics and Pathology
Harvard Medical School
Division of Immunology
Children's Hospital Boston
Tel: (617)-919-2276 
Sent from my Verizon Wireless BlackBerry

-----Original Message-----
From: <dmvascon at usp.br>
Sender: <pagid-bounces at list.clinimmsoc.org>
Date: Thu, 3 Nov 2011 21:37:04 
To: <pagid at list.clinimmsoc.org>; Chong, Hey<hey.chong at chp.edu>
Reply-To: <pagid at list.clinimmsoc.org>
Cc: 'pagid at list.clinimmsoc.org'<pagid at list.clinimmsoc.org>
Subject: Re: [CIS-PAGID] Help with consult

Dear Hey Chong

I think that Kate's thinking of a SCID with multiple intestinal  
atresias is attractive.
In reality I've never seen such patients.

On the other hand we follow up a few patients with hereditary  
lymphedema with intestinal lymphangiectasia.
Some of them present low IgG and very low CD4+ T cell counts,  
presenting relapsing "quasi" opportunistic infections (disseminated  
mycobacteriosis and candidiasis) needing continuous therapy for the  
infections.

One of these patients presented recently an invasive cervical cancer  
with very quick evolution. e useful Could this accelerated evolution  
of the neoplastic disease be related to the cellular immunodeficiency  
associated to the protein-losing enteropathy?

Could IgG replacement be useful in a patient losing large amounts of  
IgG by the bowels?

In the setting of a multiple organ transplantation, probably adding a  
liver or bone marrow transplantation might facilitate the management  
of the immunosuppression and GvHD in the long term follow-up of your  
patient.

Best regards,

Dewton Vasconcelos
University of São Paulo School of Medicine


Citando "Chong, Hey" <hey.chong at chp.edu>:


>

> Hello All:

>

>  I have a 13 yo female with "combined immunodeficiency "  

> (lymphopenia, with low CD4 count, low IgG and a protein losing  

> enteropathy).  She had gastroschisis and atresias at birth now s/p  

> numerous small and large bowel resections currently being evaluated  

> for small bowel/colon/stomach transplant.   The transplant team  

> would like to know what to expect with the immunosuppression used  

> for transplantation in the setting of her immunodeficiency.  Could  

> anyone comment specifically on the role of immunodeficiency in GVHD  

> and infections post transplant?

>

> Does anyone have any experience with managing transplants in CVID  

> patients and what to expect?  Should they be monitored any  

> differently?  Should the immunosuppression used be any different  

> than any other patient?

> .

> *       More history:

>    CID diagnosed in 2006

>    *    Poor/absent response to vaccines

>    *    Low IgG but normal IgA and IgM in the past currently on SQ  

> IGx 2 years

>    *    Decreased T cell proliferation with mitogens and antigens

>    *    Lymphopenia with CD4 counts as low as 70 and history of PCP  

> prophylaxis without hx of OI's

>    *    Last 2 months with splenomegaly

>    *    adrenal insufficiency

>

>

>

> I would appreciate any help and advice and willing to answer any questions.

>

> Thanks very much

>

> Hey Chong

>

>

>

> Hey Jin Chong MD PhD

> Assistant Professor of Pediatrics

> Division of Pulmonary Medicine, Allergy & Immunology

> Children's Hospital of Pittsburgh of UPMC

> One Children's Hospital Drive

> 4401 Penn Avenue

> Pittsburgh, PA 15224

> tel 412-692-7885

> fax 412-692-8499

>

>

>

>

>

>