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

[Kirkpatrick, Charles]

Evan:

There are a few papers that describe immune globulin abnormalities and, in some cases, impaired antibody responses in patients with chronic candidiasis.  Most of these reports were published before the mutations in the AIRE gene were identified, so one cannot be sure that all patients had this syndrome.

Bentur, et al. (J Pediatr 1991; 118:82-860 described 4 cases with chronic lung disease and repeated bacterial infections.  All 4 had abnormal IgG subclasses and poor antibody responses.

Kalfa, et al (Ann Allergy Asthma Immunol 2003; 90:250-264) reviewed 9 cases including the cases published by Bentur) who had selective antibody deficiencies.

Mel Burger and I have 3 or 4 cases of patients with chronic candidiasis who during the years of observation developed pan-hypogammaglobulinemia and antibody deficiency.  Both of my cases had poly-endocrinopathy and autoimmunity so they may have had the AIRE mutation.  The end result was very much like CVID.  We never got around to publishing these cases.

Your patient may follow a similar course, so I suggest that you keep track of his Ig and antibody responses.

Charles Kirkpatrick

From: Evan Shereck [mailto:shereck at ohsu.edu]
Sent: Tuesday, November 06, 2012 3:50 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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