[CIS PIDD] [cis-pidd] Immunosuppression in APECED?

[CIS-PIDD]

Hi Evan – we definitely use immune suppression, depending on/catered to the disease manifestation.  MMF is very well tolerated and can be efficacious.

You might consider contacting Michail Lionakis at the NIH who follows a very large cohort of these patients.

Megan


Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Director, Clinical Immunology
Washington University School of Medicine
Cooper_m at wustl.edu<mailto:Cooper_m at wustl.edu>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
(lab office) 314-286-0262
(lab fax) 314-286-2895



From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Tuesday, June 20, 2017 7:47 PM
To: CIS-PIDD
Subject: [cis-pidd] Immunosuppression in APECED?

Dear All,

I am following a 17 year old boy with 2 mutations in AIRE (c.789C>T, heterozygous nonsense and c.967_979, deletion codon 323:327) who has hypothyroidism, addison's, hypoparathyroidism, pernicious anemia, pancreatic insufficiency, alopecia, blindness secondary to limbic stem cell deficiency, hypogammaglobulinemia and poor weight gain. He has very poor quality of life (according to him). He is no longer in school and is half-heartedly trying for his GED. He has low energy and has eye pain on a daily basis. He is feeling quite desperate for something to change.

I have seen some case reports of people with APECED being treated with immunosuppression. Has anyone here tried this? What kind of response did the patients have? His ophthalmologist is considering a limbic stem cell transplant for his eyes which would require him to be on tacrolimus and MMF.

Thanks.

-Evan


Evan Shereck, MD, MEd
Associate Professor of Pediatrics
Director, Pediatric Hematology/Oncology Fellowship
Block Co-Director, Blood and Host Defense
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<https://mail.ohsu.edu/owa/14.3.266.1/scripts/premium/redir.aspx?SURL=Lo7EaJgNr7dm-91Vzq29a6AsFozcU6HcZxr1gNGTZFW2xPIy05TTCG0AYQBpAGwAdABvADoAcwBoAGUAcgBlAGMAawBAAE8ASABTAFUALgBlAGQAdQA.&URL=mailto%3ashereck%40OHSU.edu>
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