[CIS-PAGID] APECED - long term prognosis

[Desa Lilic]

There is a review paper by jakko Perheentupa (finland) in j clin endo metab 2006 or 07 summarising followup of >90 APECED patiens which may be helpful.
Desa Lilic MD MSc DSc FRCPath
Consultant & hon clin sen lecturer in Immunology

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________________________________
From: Dewton Vasconcelos <dmvascon at usp.br>
Sender: "pagid-bounces at list.clinimmsoc.org" <pagid-bounces at list.clinimmsoc.org>
Date: Fri, 30 Sep 2011 22:02:33 +0100
To: pagid at list.clinimmsoc.org<pagid at list.clinimmsoc.org>
ReplyTo: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>
Cc: Church, Joseph<JChurch at chla.usc.edu>
Subject: Re: [CIS-PAGID] APECED - long term prognosis

Dear Joe

We are nowadays following 6 APECED patients.
The older one is 46 years old, with several autoimmune manifestations (parathyroid, adrenal, gonads, islet beta-cells, gastric parietal cells), ectodermal dysplasia (dystrophic dental enamel and nails) and universal alopecia. His diabetes is very difficult to control, but the other endocrinopathies are reasonably easy to control (sometimes he presents hyper and hypocalcemia).
There are other younger patients, presenting gradative appearance of endocrinopathies since childhood (usually between 5 and 10 years-old).
One patient, now 18 years old, presents mucocutaneous candidiasis since early childhood and started to present hypoparathyroidism and hypoadrenalism a few months ago. This patient has not been sequenced until now.
Another patient (compound heterozygous) present besides the endocrinopathies and candidasis, choreic manifestations that we are nowadays searching for the cause (autoimmune against basal ganglia? Huntington's?)
Another one presents autoimmune hepatitis with a cholestatic pattern, which is unusual, and hypergammaglobulinemia (7 g/dl of polyclonal IgG).

So I think that we need to look for these patients very carefully, because they can present with very unusual and unpredictable manifestations.

All the best,

Dewton

Dewton Vasconcelos
University of São Paulo School of Medicine

Church, Joseph wrote:
Colleagues:

I follow a teen with APECED (documented AIRE mutation).  Over time he has progressively developed additional auto-immune target organs.

What is the long term prognoses/survival of these patients with current endocrinologic support?

Joe Church
Children’s Hospital Los Angeles

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