[CIS PIDD] APECED & lung transplantation

[Church, Joseph]

Richard:

It would be important to determine if this patient had an AIRE mutation.  It might change the way we think of how and where AIRE works.

The genetic study could be done on buccal swab cells.

Joe Church
Children's Hospital Los Angeles

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Richard Wasserman
Sent: Thursday, July 26, 2012 6:37 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS PIDD] APECED & lung transplantation

I have a patient with polyendocrinopathy (thyroid, parathyroid, adrenal) and chronic mucocutaneous candida (never genotyped) who had HSCT (matched sib) about 15 years ago. There has been no additional endocrinopathy (no diabetes), no recovery of pre-existing endocrinopathy and no candidiasis.
Richard Wasserman
Dallas
On Thu, Jul 26, 2012 at 8:08 AM, Elie Haddad <elie.haddad at umontreal.ca<mailto:elie.haddad at umontreal.ca>> wrote:
Dear Desa,
I think lung transplantation will be tough in your case, and the logical idea to do lung and HSCT with the same donor does not seem very feasible.
However, about Rituximab, I would advise you to try it in your patient. We've had a patient with APECED and it worked during many years for her multiple autoimmunity and the patient does not want to stop it since she says it's the best treatment she ever had and all her endocrinological and metabolic disturbances are stabilized by Rituximab. Will it work also for interstitial lung disease ? I don't know, but the idea to do like in GLILD associated with CVID with Rituximab and Imuran seems a logical option. I would say you have not much lo loose.
Interestingly, (and it was in 2006) the patient told me that after Rituximab, her severe candidiasis vanished. To tell you the truth, I thought it was "psychological". Before giving Rituximab, I was concerned by this candidiasis, but we felt that killing B cells should not be too dangerous for her candidiasis. However, we did not think that it would cure her candidiasis. Now that we know that there are anti-IL-17 autoantibodies in this disease, it sounds logical. Therefore, Rituximab maybe will help for lung autoimmunity and maybe will help for clearing the candidiasis before the transplantation if you decide to do it.
I hope it will help
All the best
Elie


Elie Haddad, MD, PhD,
Professor of Pediatrics, University of Montreal,
Head, Pediatric Immunology and Rheumatology Division,
CHU Sainte-Justine, 3175 Cote Sainte-Catherine
Montreal, QC, H3T 1C5, Canada
Ph: 1 514 345 4713<tel:1%20514%20345%204713>
fax: 1 514 345 4897<tel:1%20514%20345%204897>
e-mail: elie.haddad at umontreal.ca<mailto:elie.haddad at umontreal.ca>




Le 2012-07-26 à 04:47, Desa Lilic a écrit :


Thnx for reply. I am aware of a clinical trial in Great Ormond Street (GOS - London) of thymic transplants in Di George but not in APECEDs


best
desa
________________________________
From: pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org> [pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org>] on behalf of Church, Joseph [JChurch at chla.usc.edu<mailto:JChurch at chla.usc.edu>]
Sent: 25 July 2012 18:18
To: pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>
Subject: Re: [CIS PIDD] APECED & lung transplantation
Theoretically, a thymus transplant should help and may be less risky than BMT.  Unfortunately, I don't know any centers doing thymus transplant in APECED.

Joe Church
Children's Hospital Los Angeles

From: pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org> [mailto:pagid-bounces at list.clinimmsoc.org<mailto:pagid-bounces at list.clinimmsoc.org>] On Behalf Of Desa Lilic
Sent: Wednesday, July 25, 2012 3:30 AM
To: pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>
Subject: [CIS PIDD] APECED & lung transplantation

Dear all,


We have a young lady (26 yr) who has antibody deficiency & APECED - MC,
HP, Addison, Autoimmune hepatitis, Lymphocytic Interstitial pneumonitis
and autoimmune ovarian failure (see attached summary for more details).


She has bad bronchiectasis ( being managed by our CF colleagues) with
deteriorating lung function.  Given the rapidity of deterioration in her
lung function, the lung physicians  are considering a referral
for assessment for a lung transplant.


1.  Are you aware any lung transplantations in the AIRE Mutation /
APECED cohort ?  (no published reports; I have liaised Jaakko
Perheentupa - none in the Finnish cohort; )
 1.  Risk of invasive candidiasis with significant immunesuppresion (

>aware of the report on renal transplant - there was no invasive

>candidiasis)

 1.  Prognosis and life expectancy of a typical APECED patient with HP,
Adr failure, autoimmune hepatitis. To make an reasoned case for lung

>transplant

1.  Thoughts on simultaneous Thymic transplant  ?
1.  Does the diagnosis of APECED in any way influence ones decision
making process for eligibility of a lung transplant and risk benefit
analysis ?
1.  She is on Azathioprine for autoimmune hepatitis.  One of the
discussion points in our MDT  was whether she would benefit form
rituximab - to rx a potential ongoing interstitial inflammation in her
lung.


Would be grateful for your thoughts / comments.
Desa

Desa Lilic, MD, MSc, PhD, FRCPath
Consultant & Clinical Senior Lecturer in Immunology
Institute for Cellular Medicine
4th Fl Cookson Bldg
Faculty of Medical Sciences
University of Newcastle
Newcastle upon Tyne, UK, NE2 4HH

tel: ++ 44 (0)191 222 7244<tel:%2B%2B%2044%20%280%29191%20222%207244>
fax: ++ 44 (0)191 222 5455<tel:%2B%2B%2044%20%280%29191%20222%205455>
email: desa.lilic at ncl.ac.uk<mailto:desa.lilic at ncl.ac.uk>


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--
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211


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