[PAGID] siblings with possible APECED and lung disease

[Charles.Kirkpatrick at UCHSC.edu]

It is not rare for patients with chronic mucocutaneous candidiasis to have chronic progressive lung disease.  Some of these patients also have antibody deficiencies as well as the well known defects in cellular immunity.  I am aware of 4 or 5 patients who have "progressed" to a disorder that is like CVID (hypogammaglobulinemia and deficient antibody responses).  There are several papers that also describe IgG subclass abnormalities, deficient antibody production and progressive lung disease in this population. They may benefit from immune globulin replacement. 

Charles Kirkpatrick, M.D.
Dept. of Medicine
Univ. of Colorado Health Sciences Center
 
-----Original Message-----
From: pagid-bounces at clinimmsoc.org [mailto:pagid-bounces at clinimmsoc.org] On Behalf Of Jennifer.Barker at uchsc.edu
Sent: Thursday, December 22, 2005 9:40 AM
To: pagid at clinimmsoc.org
Subject: RE: [PAGID] siblings with possible APECED and lung disease

thanks
I will forward the information to the physician involved.


Jennifer M. Barker, MD
Instructor in Pediatrics
Barbara Davis Center 
University of Colorado Health Sciences Center

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-----Original Message-----
From: pagid-bounces at clinimmsoc.org
[mailto:pagid-bounces at clinimmsoc.org]On Behalf Of notarang at med.unibs.it
Sent: Thursday, December 22, 2005 10:23 AM
To: pagid at clinimmsoc.org
Subject: Re: [PAGID] siblings with possible APECED and lung disease


I am convinced that indeed APECED is the most likely diagnosis. We have 
followed several patients who have develòped very severe lung disease 
(ultimately with fatal outcome).
While I don't know which centers would be in the best position to provide 
comprehensive clinical care in the US, I would be happy to offer genetic 
testing for free, considering the social situation of the family.

If you are interested, let me know

Luigi D. Notarangelo
Head, Department of Pediatrics
University of Brescia
Spedali Civili
25123 Brescia
Italy
e-mail: notarang at med.unibs.it



> Hi all, we received a e mail consult from a physician who is caring for
> siblings that are described below:  any input would be appreciated.
> thanks
> Jennifer:
> 
> I have 2 patients - a brother and a sister.
> 
> The sister, SC, is a 21 year old.  She has parathyroid failure (I  
> treat her with forteo, rocaltrol and calcium carb. oral suspension),  
> adrenal insufficiency, muco-cutaneous candidiasis, dental/nail  
> abnormalities, ovarian failure.  She also has had recurrent, severe,  
> pneumonitis/bronchitis/asthma episodes with almost monthly  
> hospitalizations.  Often her CRP is >30.  She has some early signs of  
> brochiectasis from necrotizing pneumonia.  Most recently she grew  
> MRSA from her sputum - either the pathogen, or a fellow traveller -  
> she is improving with vancomycin.  She also has chronic abdominal  
> pain and malabsorbs iron and vitamin D.
> 
> Her brother, AC, is 18 year old.  He has worse lung findings and is  
> on home nebulized tobramicin.  He has pernicious anemia, candidiasis,  
> nail changes, parathyroid failure.
> 
> I have no access to testing the AIRE gene - I wonder if there is a  
> new mutation, or a deletion into surrounding areas to explain the  
> severe lung disease.  We have looked at the possibility of  
> coincidental cystic fibrosis - we think we have ruled this out.
> 
> I am concerned for these young people as their father died at 29  
> years old of what sounds like the same disease.
> 
> Do you have a good idea of a clinical center that would be able  
> to deal with the 3 components of this problem:  the polyglandular  
> endocrine side, the complex/subtle immune dysregulation and the  
> severe pulmonary manifestations.
> 
> These patients have Medicaid and have few resources themselves.
> 
> 
> 
> 
> Jennifer M. Barker, MD
> Instructor in Pediatrics
> Barbara Davis Center 
> University of Colorado Health Sciences Center
> 
> CONFIDENTIALITY NOTICE: The information contained in this message is
> legally privileged and confidential information intended only for the
> use of the individual or organization to whom it is addressed. If the
> reader of this message is not the intended recipient, or the employee or
> the agent responsible to deliver it to the intended recipient, be
> advised that you have received this e-mail in error and that any use,
> dissemination, forwarding, printing or copying of this e-mail is
> strictly prohibited. If you have received this e-mail in error, please
> notify the author immediately by replying to this message and delete the
> original message. Thank you.
> 
> 





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