[CIS PIDD] [cis-pidd] Autoimmune polyglandular syndrome with low immunoglobulins

[Ravishankar.Sargur at sth.nhs.uk]

We have young lady who was diagnosed with APECED at the age 2, confirmed
heterozygote AIRE mutation. 

(Hypoparathyroidism, Addisions, mucosal candida, Autoimmune ovarian
failure at the age of 21 )

She presented to us with recurrent ear, sinus and chest infections at
the age of  14.  

Normal total IIGs but  poor response to Pneumovax and Hib. 

Normal lymphocyte subsets  and proliferation. 

 

On AZA for autoimmune hepatitis and later developed autoimmune
interstitial lung disease. 

 

On Ig replacement since 2000 with very good symptomatic improvement with
regards to infections. We tried stopping IIGs after a couple of years
but relapse of  infections. 

 

So was restarted IG replacement. Since then she has become IgA
deficient.   A case of antibody deficiency in evoloution.

Minimally decreased swiched memory B cells. ( in 2010). 

 

If suboptimal response to Pneumovax -> ? consider Ig replacement if
having ear, sinus and infections

 

Would consider quadrivalent HPV vaccine as well given the increased risk
of papillomas with Tac. 

 

Ravi 

 

Dr Ravishankar Sargur

MD, FRCPath, FRCP

Consultant Clinical Immunologist

Immunology, NGH

Sheffield Teaching Hospitals Foundation NHS Trust. 

 

Training Programme Director

Immunology

East Midlands Deanery and Yorkshire & Humber Deanery

 

________________________________

From: Evan Shereck [mailto:shereck at ohsu.edu] 
Sent: 06 November 2012 23:07
To: CIS-PIDD
Subject: RE: [cis-pidd] Autoimmune polyglandular syndrome with low
immunoglobulins

 

That's one reason why I am confused. He does not have diarrhea and his
serum albumin is 4.2. I don't have a good reason for borderline IgG.

 

-Evan

 

From: Church, Joseph [mailto:JChurch at chla.usc.edu] 
Sent: Tuesday, November 06, 2012 3:04 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] Autoimmune polyglandular syndrome with low
immunoglobulins

 

Evan:

 

I didn't think that APECED/APS1 is associated with immune deficiency.
Why is his IgG borderline?  Does he have protein losing via gut (serum
albumin?).

 

Consider giving him a Hib "boost" and a Pneumovax prior to the
procedure.

 

Joe Church

Children's Hospital Los Angeles

 

From: Evan Shereck [mailto:shereck at ohsu.edu] 
Sent: Tuesday, November 06, 2012 2:50 PM
To: CIS-PIDD
Subject: [cis-pidd] Autoimmune polyglandular syndrome with low
immunoglobulins

 

I was wondering if I could have your opinion on a new patient of mine.
He is a 12 yo boy who was recently diagnosed with autoimmune
polyglandular syndrome type I confirmed by molecular study with compound
heterozygote AIRE gene mutations in March 2012.  He has chronic
keratoconjunctivitis and is now nearly blind, failure to thrive,
hypoparathyroidism, and recurrent HSV stomatitis.  The ophthalmologists
are planning a limbic stem cell transplant for each eye and he will be
placed on Tac and MMF afterwards. I performed an immune work-up on him
pre-immunosuppression. Below are the results:

 

IgE- 7

IgG- sublcass I- 358

Total IgG- 608

IgA- 72

IgM- 34

Diptheria titer- 1.1

Tetanus titer- 0.4

Haemophilus titer- 0.1

Prevnar- see attached form

Lymphocyte mitogens- nl response to PHA, con A, and pokeweed

Lymphocyte subsets: Decreased numbers of T cells- Decrease in CD3+, CD8+
T cells (total- 128 cells/ul) - Borderline increased percentage of
double negative T cells (7.31% of lymphs), Alpha/beta DNTs of 0.63 % of
lymphs,  Decreased numbers of B cells (total 124.18 cells/ul)- No
monoclonal B cell population identified - Mild increased percentage of
polyclonal CD5 positive B cells for age - Minimally decreased percentage
of nonswitched memory B cells (IgD+, CD27+) - Decreased numbers of NK
cells (total 49.23 cells/ul)

 

 

This is the first such kid that I have encountered with this disorder. I
was wondering what your thoughts were about the mildly abnormal immune
work-up. Any advice you have, would be much appreciated.

 

Thanks.

 

-Evan

 

Evan Shereck, MD

Assistant Professor of Pediatrics, Co-Director of Pediatric
Hematology/Oncology Fellowship

Oregon Health & Science University I  3181 SW Sam Jackson Park Rd, Mail
Code: CDRCP  I  Portland, OR 97239

* (Office): 503-494-0829  I  (Fax): 503-494-0714

 * (E-mail): shereck at OHSU.edu

 

 

 

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