[PAGID] siblings with possible APECED and lung disease

[fml2 at email.med.yale.edu]

We have two APECED patients with similar issues
The first is a 59 yo with APECED (thryoid, adrenal, iritis and ovarian failure,
confirmed aire mutations) who suffered from recurrent episodes of Staph (MSSA)
pneumonia starting 10 years ago which led to severe bronchiectasis.  Work up
revealed low IgG2.  Since starting IVIG, she has not had Staph, but has
recurrent Pseudomonas and Stenotrophomonas.  Her bronchiectasis has been focal
and stable for about 2 years.
A second pt (parathyroid and ovarian failure, aire not sequenced)last year
developed recurrent Staph pneumonia (MSSA then MRSA) and diffuse
bronchiectasis, but IgG subclasses were normal and pt did not want empiric
IVIG. Her bronchiectasis improved, however, after a prolonged course of bactrim
given by our pulmonologists, and she has had no recurrence of pneumonia in over
one year.
I would agree with checking IgG subclasses, as it appears to have benefitted at
least one of our patients.
Frank Lobo
Yale School of Medicine
Quoting Jennifer.Barker at UCHSC.edu:

> 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
>
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