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

[Dr. Carsten Speckmann]

  You might be interested in this abstract of Elisabetta Traggiai:

http://esid.ekonnect.co/ESID_277/poster_39061/program.aspx

Elisabetta might also be able to tell you how these B cells 
abnormalities translate into a clinical relevant "IgG phenoytpe" in her 
cohort.

Kind regards, Carsten Speckmann

-- 
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de



Am 07.11.12 00:07, schrieb Evan Shereck:

>

> 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 <mailto:shereck at OHSU.edu>

>

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